BIRC6 (baculoviral IAP repeat containing 6) - Rat Genome Database

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Gene: BIRC6 (baculoviral IAP repeat containing 6) Homo sapiens
Analyze
Symbol: BIRC6
Name: baculoviral IAP repeat containing 6
RGD ID: 1316326
HGNC Page HGNC:13516
Description: Enables cysteine-type endopeptidase inhibitor activity and ubiquitin-protein transferase activity. Involved in negative regulation of extrinsic apoptotic signaling pathway and regulation of cytokinesis. Located in several cellular components, including microtubule cytoskeleton; midbody; and trans-Golgi network.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: APOLLON; baculoviral IAP repeat-containing 6; baculoviral IAP repeat-containing protein 6; BIR repeat-containing ubiquitin-conjugating enzyme; BRUCE; FLJ13726; FLJ13786; KIAA1289; RING-type E3 ubiquitin transferase BIRC6; ubiquitin-conjugating BIR domain enzyme apollon; ubiquitin-conjugating BIR-domain enzyme apollon
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38232,357,023 - 32,618,878 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl232,357,023 - 32,619,571 (+)EnsemblGRCh38hg38GRCh38
GRCh37232,582,091 - 32,843,945 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36232,435,600 - 32,697,470 (+)NCBINCBI36Build 36hg18NCBI36
Build 34232,493,964 - 32,754,622NCBI
Celera232,426,891 - 32,688,789 (+)NCBICelera
Cytogenetic Map2p22.3NCBI
HuRef232,320,949 - 32,583,634 (+)NCBIHuRef
CHM1_1232,512,260 - 32,774,075 (+)NCBICHM1_1
T2T-CHM13v2.0232,405,536 - 32,667,526 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Inhibitor of apoptosis proteins: new therapeutic targets in hematological cancer? de Graaf AO, etal., Leukemia. 2004 Nov;18(11):1751-9.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Comprehensive molecular characterization of inhibitors of apoptosis proteins (IAPs) for therapeutic targeting in cancer. Liang J, etal., BMC Med Genomics. 2020 Jan 21;13(1):7. doi: 10.1186/s12920-020-0661-x.
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:7566098   PMID:8889548   PMID:9628897   PMID:10544019   PMID:10574462   PMID:12168954   PMID:12477932   PMID:14702039   PMID:14765125   PMID:15200957   PMID:15300255   PMID:15314180  
PMID:15507451   PMID:15781261   PMID:16196087   PMID:18329369   PMID:18414036   PMID:18654987   PMID:19223905   PMID:19946888   PMID:20800603   PMID:20819778   PMID:20957035   PMID:21542283  
PMID:21788403   PMID:21873635   PMID:22027771   PMID:22085301   PMID:22113938   PMID:22553342   PMID:22586326   PMID:22788920   PMID:22863883   PMID:23287853   PMID:23414517   PMID:24255178  
PMID:24302728   PMID:24453032   PMID:25118708   PMID:25138702   PMID:25196217   PMID:25476789   PMID:25733871   PMID:25737280   PMID:25933218   PMID:26186194   PMID:26496610   PMID:26638075  
PMID:26683461   PMID:26748613   PMID:26972000   PMID:27129302   PMID:27182664   PMID:27388765   PMID:27432467   PMID:27614745   PMID:27634302   PMID:27649954   PMID:27663589   PMID:27880917  
PMID:28358418   PMID:28380382   PMID:28514442   PMID:28515276   PMID:29074849   PMID:29162697   PMID:29395067   PMID:29426817   PMID:29429983   PMID:29467282   PMID:29507755   PMID:29511261  
PMID:29560723   PMID:29568061   PMID:29676528   PMID:29764561   PMID:29778605   PMID:29911972   PMID:29955894   PMID:30021884   PMID:30110629   PMID:30631154   PMID:30931701   PMID:31091453  
PMID:31213539   PMID:31586073   PMID:31617661   PMID:31692446   PMID:31935634   PMID:31980649   PMID:32019552   PMID:32694731   PMID:32707033   PMID:32723828   PMID:32877691   PMID:32989298  
PMID:33187986   PMID:33317170   PMID:33545068   PMID:33660365   PMID:33711283   PMID:33961781   PMID:34079125   PMID:34186245   PMID:34349018   PMID:34354038   PMID:34373451   PMID:34542161  
PMID:34672954   PMID:34709266   PMID:34709727   PMID:34761192   PMID:35032548   PMID:35271311   PMID:35337019   PMID:35439318   PMID:35559673   PMID:35563538   PMID:35748872   PMID:35831314  
PMID:35844135   PMID:35866869   PMID:35941108   PMID:35944360   PMID:36033570   PMID:36114006   PMID:36180527   PMID:36215168   PMID:36455174   PMID:36758104   PMID:36758105   PMID:36758106  
PMID:37689310   PMID:37827155   PMID:38438090  


Genomics

Comparative Map Data
BIRC6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38232,357,023 - 32,618,878 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl232,357,023 - 32,619,571 (+)EnsemblGRCh38hg38GRCh38
GRCh37232,582,091 - 32,843,945 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36232,435,600 - 32,697,470 (+)NCBINCBI36Build 36hg18NCBI36
Build 34232,493,964 - 32,754,622NCBI
Celera232,426,891 - 32,688,789 (+)NCBICelera
Cytogenetic Map2p22.3NCBI
HuRef232,320,949 - 32,583,634 (+)NCBIHuRef
CHM1_1232,512,260 - 32,774,075 (+)NCBICHM1_1
T2T-CHM13v2.0232,405,536 - 32,667,526 (+)NCBIT2T-CHM13v2.0
Birc6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391774,835,247 - 75,010,351 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1774,835,290 - 75,010,351 (+)EnsemblGRCm39 Ensembl
GRCm381774,528,254 - 74,703,356 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1774,528,295 - 74,703,356 (+)EnsemblGRCm38mm10GRCm38
MGSCv371774,927,635 - 75,103,113 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361774,433,277 - 74,608,126 (+)NCBIMGSCv36mm8
Celera1778,838,153 - 79,014,648 (+)NCBICelera
Cytogenetic Map17E2NCBI
cM Map1745.64NCBI
Birc6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8626,474,843 - 26,668,275 (-)NCBIGRCr8
mRatBN7.2620,722,922 - 20,916,396 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl620,722,922 - 20,916,434 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx621,052,875 - 21,246,458 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0621,368,724 - 21,562,308 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0620,849,173 - 21,042,748 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0621,900,763 - 22,092,484 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl621,950,100 - 22,092,346 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0631,789,563 - 31,980,891 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4620,655,186 - 20,848,961 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1620,657,539 - 20,852,541 (-)NCBI
Celera620,282,854 - 20,476,452 (-)NCBICelera
Cytogenetic Map6q13NCBI
Birc6
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955441739,567 - 922,959 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955441740,299 - 923,920 (+)NCBIChiLan1.0ChiLan1.0
BIRC6
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21293,877,633 - 94,140,932 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12A93,881,889 - 94,144,897 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02A32,373,479 - 32,633,088 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12A33,084,892 - 33,344,219 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A33,084,929 - 33,343,245 (+)Ensemblpanpan1.1panPan2
BIRC6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11725,618,262 - 25,847,920 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1725,617,892 - 25,847,202 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1725,409,075 - 25,638,461 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01726,180,036 - 26,412,717 (+)NCBIROS_Cfam_1.0
UMICH_Zoey_3.11725,479,687 - 25,710,494 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01725,551,633 - 25,782,725 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01725,651,296 - 25,881,986 (+)NCBIUU_Cfam_GSD_1.0
Birc6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440629269,724,144 - 69,936,276 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936493899,961 - 1,115,493 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936493903,295 - 1,115,434 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BIRC6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl3107,012,986 - 107,269,477 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.13107,012,967 - 107,269,370 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.23113,955,900 - 114,112,369 (-)NCBISscrofa10.2Sscrofa10.2susScr3
BIRC6
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11474,879,597 - 75,138,462 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1474,878,700 - 75,138,441 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604536,936,136 - 37,192,673 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Birc6
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473813,991,022 - 14,246,225 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473813,990,997 - 14,246,741 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in BIRC6
194 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_016252.4(BIRC6):c.3931A>G (p.Ile1311Val) single nucleotide variant Autism spectrum disorder [RCV001291265] Chr2:32441449 [GRCh38]
Chr2:32666517 [GRCh37]
Chr2:2p22.3		 association
GRCh38/hg38 2p22.3(chr2:32452646-33032447)x3 copy number gain See cases [RCV000050870] Chr2:32452646..33032447 [GRCh38]
Chr2:32677714..33257514 [GRCh37]
Chr2:32531218..33111018 [NCBI36]
Chr2:2p22.3		 benign|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3 copy number gain See cases [RCV000052933] Chr2:66097..55570637 [GRCh38]
Chr2:66097..55797773 [GRCh37]
Chr2:56097..55651277 [NCBI36]
Chr2:2p25.3-16.1		 pathogenic
GRCh38/hg38 2p23.1-22.3(chr2:31370181-32512769)x1 copy number loss See cases [RCV000053981] Chr2:31370181..32512769 [GRCh38]
Chr2:31593047..32737836 [GRCh37]
Chr2:31446551..32591340 [NCBI36]
Chr2:2p23.1-22.3		 pathogenic
NM_016252.3(BIRC6):c.9802C>T (p.Gln3268Ter) single nucleotide variant Malignant melanoma [RCV000065570] Chr2:32508081 [GRCh38]
Chr2:32733148 [GRCh37]
Chr2:32586652 [NCBI36]
Chr2:2p22.3		 not provided
inv(2)(p21p23.2) inversion Endometrial carcinoma [RCV000659263] Chr2:29447680..42554394 [GRCh37]
Chr2:2p23.2-21		 likely pathogenic
NM_016252.4(BIRC6):c.7976_7979dup (p.Leu2661fs) duplication not provided [RCV000513881] Chr2:32488593..32488594 [GRCh38]
Chr2:32713660..32713661 [GRCh37]
Chr2:2p22.3		 uncertain significance
GRCh38/hg38 2p22.3(chr2:32452615-33032312)x3 copy number gain See cases [RCV000134078] Chr2:32452615..33032312 [GRCh38]
Chr2:32677683..33257379 [GRCh37]
Chr2:32531187..33110883 [NCBI36]
Chr2:2p22.3		 benign|likely benign|conflicting data from submitters
GRCh38/hg38 2p22.3(chr2:32452646-33069656)x3 copy number gain See cases [RCV000135183] Chr2:32452646..33069656 [GRCh38]
Chr2:32677714..33294723 [GRCh37]
Chr2:32531218..33148227 [NCBI36]
Chr2:2p22.3		 benign|likely benign|conflicting data from submitters
GRCh38/hg38 2p22.3(chr2:32562132-32896519)x4 copy number gain See cases [RCV000135054] Chr2:32562132..32896519 [GRCh38]
Chr2:32787199..33121586 [GRCh37]
Chr2:32640703..32975090 [NCBI36]
Chr2:2p22.3		 benign
GRCh38/hg38 2p22.3(chr2:32438092-33069715)x3 copy number gain See cases [RCV000135688] Chr2:32438092..33069715 [GRCh38]
Chr2:32663160..33294782 [GRCh37]
Chr2:32516664..33148286 [NCBI36]
Chr2:2p22.3		 likely benign
GRCh38/hg38 2p22.3(chr2:32107824-32499727)x3 copy number gain See cases [RCV000137454] Chr2:32107824..32499727 [GRCh38]
Chr2:32332893..32724794 [GRCh37]
Chr2:32186397..32578298 [NCBI36]
Chr2:2p22.3		 uncertain significance
GRCh38/hg38 2p22.3(chr2:32562132-32743452)x3 copy number gain See cases [RCV000140137] Chr2:32562132..32743452 [GRCh38]
Chr2:32787199..32968519 [GRCh37]
Chr2:32640703..32822023 [NCBI36]
Chr2:2p22.3		 benign
GRCh38/hg38 2p22.3(chr2:32104942-32501212)x3 copy number gain See cases [RCV000141819] Chr2:32104942..32501212 [GRCh38]
Chr2:32330011..32726279 [GRCh37]
Chr2:32183515..32579783 [NCBI36]
Chr2:2p22.3		 uncertain significance
GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3 copy number gain See cases [RCV000141829] Chr2:12770..33711509 [GRCh38]
Chr2:12770..33936576 [GRCh37]
Chr2:2770..33790080 [NCBI36]
Chr2:2p25.3-22.3		 pathogenic
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 copy number gain See cases [RCV000141494] Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2		 benign
GRCh38/hg38 2p22.3(chr2:32289459-33024069)x3 copy number gain See cases [RCV000142601] Chr2:32289459..33024069 [GRCh38]
Chr2:32514528..33249136 [GRCh37]
Chr2:32368032..33102640 [NCBI36]
Chr2:2p22.3		 benign
GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3 copy number gain See cases [RCV000143682] Chr2:236816..45983232 [GRCh38]
Chr2:236816..46210371 [GRCh37]
Chr2:226816..46063875 [NCBI36]
Chr2:2p25.3-21		 pathogenic
GRCh38/hg38 2p22.3(chr2:32452646-33032447)x3 copy number gain See cases [RCV000148094] Chr2:32452646..33032447 [GRCh38]
Chr2:32677714..33257514 [GRCh37]
Chr2:32531218..33111018 [NCBI36]
Chr2:2p22.3		 benign
Single allele deletion Hereditary spastic paraplegia 4 [RCV000203462] Chr2:32327163..32886455 [GRCh37]
Chr2:2p22.3		 pathogenic
Single allele deletion Hereditary spastic paraplegia 4 [RCV000203468] Chr2:32362824..32817794 [GRCh37]
Chr2:2p22.3		 pathogenic|likely pathogenic
Single allele deletion Hereditary spastic paraplegia 4 [RCV000203490] Chr2:32348594..33632523 [GRCh37]
Chr2:2p22.3		 pathogenic
GRCh37/hg19 2p22.3(chr2:32514528-32806011)x3 copy number gain not provided [RCV000762772] Chr2:32514528..32806011 [GRCh37]
Chr2:2p22.3		 likely benign
NC_000002.11:g.(32289091_32312562)_(32958959_32999928)del deletion Hereditary spastic paraplegia 4 [RCV001269482] Chr2:32312562..32958959 [GRCh37]
Chr2:2p22.3		 likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_016252.4(BIRC6):c.118G>C (p.Gly40Arg) single nucleotide variant not specified [RCV004293649] Chr2:32357279 [GRCh38]
Chr2:32582347 [GRCh37]
Chr2:2p22.3		 uncertain significance
GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3 copy number gain See cases [RCV000454271] Chr2:27861707..60790985 [GRCh37]
Chr2:2p23.3-16.1		 pathogenic
GRCh37/hg19 2p22.3(chr2:32610082-33285390)x3 copy number gain See cases [RCV000446680] Chr2:32610082..33285390 [GRCh37]
Chr2:2p22.3		 benign
GRCh37/hg19 2p23.2-21(chr2:28069882-43543420)x3 copy number gain See cases [RCV000447397] Chr2:28069882..43543420 [GRCh37]
Chr2:2p23.2-21		 pathogenic
GRCh37/hg19 2p22.3(chr2:32746129-32913607)x1 copy number loss See cases [RCV000448866] Chr2:32746129..32913607 [GRCh37]
Chr2:2p22.3		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p22.3(chr2:32339736-32875274) copy number loss not provided [RCV000767550] Chr2:32339736..32875274 [GRCh37]
Chr2:2p22.3		 pathogenic
NM_016252.4(BIRC6):c.2632A>G (p.Ile878Val) single nucleotide variant not specified [RCV004295884] Chr2:32415923 [GRCh38]
Chr2:32640991 [GRCh37]
Chr2:2p22.3		 likely benign
t(2;2)(p23;p21)(hg19 chr2:g.42552694::ochr2:g.29446394) inversion Small cell lung carcinoma [RCV000576833] Chr2:29446394..42552694 [GRCh37]
Chr2:2p23.2-21		 pathogenic
NM_016252.4(BIRC6):c.8153C>T (p.Thr2718Ile) single nucleotide variant not specified [RCV004308337] Chr2:32490098 [GRCh38]
Chr2:32715165 [GRCh37]
Chr2:2p22.3		 uncertain significance
GRCh37/hg19 2p24.1-16.3(chr2:22665048-52850368)x3 copy number gain not provided [RCV000752875] Chr2:22665048..52850368 [GRCh37]
Chr2:2p24.1-16.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p22.3(chr2:32515609-32691438)x3 copy number gain not provided [RCV000752890] Chr2:32515609..32691438 [GRCh37]
Chr2:2p22.3		 benign
GRCh37/hg19 2p22.3(chr2:32633569-33331219)x3 copy number gain not provided [RCV000752891] Chr2:32633569..33331219 [GRCh37]
Chr2:2p22.3		 benign
NC_000002.12:g.(?_32528746)_(32559427_?)del deletion Schizophrenia [RCV000754261] Chr2:32528746..32559427 [GRCh38]
Chr2:2p22.3		 likely pathogenic
GRCh37/hg19 2p23.3-21(chr2:24881528-43460021)x3 copy number gain not provided [RCV001532444] Chr2:24881528..43460021 [GRCh37]
Chr2:2p23.3-21		 likely pathogenic
NM_016252.4(BIRC6):c.8020A>T (p.Thr2674Ser) single nucleotide variant not provided [RCV001680079] Chr2:32488639 [GRCh38]
Chr2:32713706 [GRCh37]
Chr2:2p22.3		 benign
NM_016252.4(BIRC6):c.13355+10A>G single nucleotide variant BIRC6-related condition [RCV003958116]|not provided [RCV000899374] Chr2:32575376 [GRCh38]
Chr2:32800443 [GRCh37]
Chr2:2p22.3		 likely benign
NM_016252.4(BIRC6):c.5226A>G (p.Ala1742=) single nucleotide variant not provided [RCV000982742] Chr2:32464793 [GRCh38]
Chr2:32689861 [GRCh37]
Chr2:2p22.3		 likely benign
NM_016252.4(BIRC6):c.2335A>C (p.Arg779=) single nucleotide variant not provided [RCV000899373] Chr2:32415626 [GRCh38]
Chr2:32640694 [GRCh37]
Chr2:2p22.3		 benign
NM_016252.4(BIRC6):c.4647T>A (p.Ala1549=) single nucleotide variant BIRC6-related condition [RCV003920571]|not provided [RCV000882549] Chr2:32453836 [GRCh38]
Chr2:32678904 [GRCh37]
Chr2:2p22.3		 benign
NM_016252.4(BIRC6):c.3243C>T (p.Thr1081=) single nucleotide variant not provided [RCV000964499] Chr2:32431085 [GRCh38]
Chr2:32656153 [GRCh37]
Chr2:2p22.3		 benign
NM_016252.4(BIRC6):c.5207C>T (p.Pro1736Leu) single nucleotide variant not provided [RCV000964500] Chr2:32464774 [GRCh38]
Chr2:32689842 [GRCh37]
Chr2:2p22.3		 benign
NM_016252.4(BIRC6):c.4028A>T (p.Gln1343Leu) single nucleotide variant BIRC6-related condition [RCV003903161]|not provided [RCV000946602] Chr2:32442148 [GRCh38]
Chr2:32667216 [GRCh37]
Chr2:2p22.3		 benign
NM_016252.4(BIRC6):c.4506A>G (p.Pro1502=) single nucleotide variant not provided [RCV000970822] Chr2:32448816 [GRCh38]
Chr2:32673884 [GRCh37]
Chr2:2p22.3		 benign
NM_016252.4(BIRC6):c.3324C>T (p.Phe1108=) single nucleotide variant BIRC6-related condition [RCV003970824]|not provided [RCV000961028] Chr2:32433719 [GRCh38]
Chr2:32658787 [GRCh37]
Chr2:2p22.3		 benign
NM_016252.4(BIRC6):c.12906T>C (p.Ser4302=) single nucleotide variant BIRC6-related condition [RCV003940779]|not provided [RCV000896369] Chr2:32547945 [GRCh38]
Chr2:32773012 [GRCh37]
Chr2:2p22.3		 benign
NM_016252.4(BIRC6):c.12876G>A (p.Gly4292=) single nucleotide variant BIRC6-related condition [RCV003930834]|not provided [RCV000892810] Chr2:32547915 [GRCh38]
Chr2:32772982 [GRCh37]
Chr2:2p22.3		 benign
NM_016252.4(BIRC6):c.1554A>G (p.Lys518=) single nucleotide variant BIRC6-related condition [RCV003930836]|not provided [RCV000892984] Chr2:32414845 [GRCh38]
Chr2:32639913 [GRCh37]
Chr2:2p22.3		 benign|likely benign
NM_016252.4(BIRC6):c.12522A>C (p.Leu4174=) single nucleotide variant not provided [RCV000916655] Chr2:32543471 [GRCh38]
Chr2:32768538 [GRCh37]
Chr2:2p22.3		 likely benign
NM_016252.4(BIRC6):c.13243C>A (p.Leu4415Ile) single nucleotide variant not specified [RCV004313079] Chr2:32575254 [GRCh38]
Chr2:32800321 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.7133C>A (p.Pro2378His) single nucleotide variant not specified [RCV004302375] Chr2:32478699 [GRCh38]
Chr2:32703767 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.7409-6T>C single nucleotide variant BIRC6-related condition [RCV003940724]|not provided [RCV000892826] Chr2:32481314 [GRCh38]
Chr2:32706382 [GRCh37]
Chr2:2p22.3		 likely benign
GRCh37/hg19 2p23.2-22.2(chr2:29940473-36813297)x1 copy number loss not provided [RCV000848001] Chr2:29940473..36813297 [GRCh37]
Chr2:2p23.2-22.2		 pathogenic
NM_016252.4(BIRC6):c.10807C>G (p.Leu3603Val) single nucleotide variant BIRC6-related condition [RCV003916148]|not provided [RCV000964166] Chr2:32515228 [GRCh38]
Chr2:32740295 [GRCh37]
Chr2:2p22.3		 benign
NM_016252.4(BIRC6):c.6978G>A (p.Glu2326=) single nucleotide variant not provided [RCV000964501] Chr2:32477493 [GRCh38]
Chr2:32702561 [GRCh37]
Chr2:2p22.3		 benign
GRCh37/hg19 2p23.1-22.3(chr2:31958977-33946495)x1 copy number loss not provided [RCV000846044] Chr2:31958977..33946495 [GRCh37]
Chr2:2p23.1-22.3		 pathogenic
NM_016252.4(BIRC6):c.5203C>G (p.Pro1735Ala) single nucleotide variant BIRC6-related condition [RCV003970801]|not provided [RCV000958873] Chr2:32464770 [GRCh38]
Chr2:32689838 [GRCh37]
Chr2:2p22.3		 benign
NM_016252.4(BIRC6):c.5541A>C (p.Leu1847Phe) single nucleotide variant not specified [RCV004301030] Chr2:32467709 [GRCh38]
Chr2:32692777 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.11002C>T (p.His3668Tyr) single nucleotide variant not specified [RCV004318654] Chr2:32515423 [GRCh38]
Chr2:32740490 [GRCh37]
Chr2:2p22.3		 uncertain significance
GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)x3 copy number gain See cases [RCV001581099] Chr2:24601818..43466284 [GRCh37]
Chr2:2p23.3-21		 pathogenic
NM_016252.4(BIRC6):c.13821T>C (p.Asp4607=) single nucleotide variant BIRC6-related condition [RCV003930708]|not provided [RCV000888050] Chr2:32597959 [GRCh38]
Chr2:32823026 [GRCh37]
Chr2:2p22.3		 benign
NM_016252.4(BIRC6):c.13398G>A (p.Ala4466=) single nucleotide variant not provided [RCV000978432] Chr2:32593957 [GRCh38]
Chr2:32819024 [GRCh37]
Chr2:2p22.3		 benign|likely benign
NM_016252.4(BIRC6):c.4311A>G (p.Ser1437=) single nucleotide variant BIRC6-related condition [RCV003922874]|not provided [RCV000896281] Chr2:32443563 [GRCh38]
Chr2:32668631 [GRCh37]
Chr2:2p22.3		 benign|likely benign
NM_016252.4(BIRC6):c.11583A>G (p.Pro3861=) single nucleotide variant BIRC6-related condition [RCV003925914]|not provided [RCV000949885] Chr2:32518906 [GRCh38]
Chr2:32743973 [GRCh37]
Chr2:2p22.3		 benign
NM_016252.4(BIRC6):c.13813C>A (p.Arg4605=) single nucleotide variant BIRC6-related condition [RCV003953347]|not provided [RCV000974907] Chr2:32597951 [GRCh38]
Chr2:32823018 [GRCh37]
Chr2:2p22.3		 benign
NM_016252.4(BIRC6):c.8232T>G (p.Thr2744=) single nucleotide variant BIRC6-related condition [RCV003923109]|not provided [RCV000908129] Chr2:32491450 [GRCh38]
Chr2:32716517 [GRCh37]
Chr2:2p22.3		 benign|likely benign
NM_016252.4(BIRC6):c.13101C>T (p.Ser4367=) single nucleotide variant BIRC6-related condition [RCV003916158]|not provided [RCV000964614] Chr2:32549438 [GRCh38]
Chr2:32774505 [GRCh37]
Chr2:2p22.3		 benign
NM_016252.4(BIRC6):c.13384G>A (p.Val4462Ile) single nucleotide variant BIRC6-related condition [RCV003916159]|not provided [RCV000964615] Chr2:32593943 [GRCh38]
Chr2:32819010 [GRCh37]
Chr2:2p22.3		 benign
NM_016252.4(BIRC6):c.5194G>A (p.Val1732Ile) single nucleotide variant BIRC6-related condition [RCV003928502]|not provided [RCV000971103] Chr2:32464761 [GRCh38]
Chr2:32689829 [GRCh37]
Chr2:2p22.3		 benign
NM_016252.4(BIRC6):c.10865C>T (p.Ala3622Val) single nucleotide variant not provided [RCV000894213] Chr2:32515286 [GRCh38]
Chr2:32740353 [GRCh37]
Chr2:2p22.3		 likely benign
NM_016252.4(BIRC6):c.4101C>T (p.Pro1367=) single nucleotide variant BIRC6-related condition [RCV003926152]|not provided [RCV000961397] Chr2:32442221 [GRCh38]
Chr2:32667289 [GRCh37]
Chr2:2p22.3		 benign
NM_016252.4(BIRC6):c.5124A>T (p.Pro1708=) single nucleotide variant not provided [RCV000913247] Chr2:32464691 [GRCh38]
Chr2:32689759 [GRCh37]
Chr2:2p22.3		 likely benign
NM_016252.4(BIRC6):c.10278C>G (p.Leu3426=) single nucleotide variant BIRC6-related condition [RCV003926079]|not provided [RCV000958288] Chr2:32510566 [GRCh38]
Chr2:32735633 [GRCh37]
Chr2:2p22.3		 benign
NM_016252.4(BIRC6):c.1679A>C (p.His560Pro) single nucleotide variant BIRC6-related condition [RCV003910555]|not provided [RCV000889745] Chr2:32414970 [GRCh38]
Chr2:32640038 [GRCh37]
Chr2:2p22.3		 benign|likely benign
Single allele deletion Spastic paraplegia [RCV001267824] Chr2:32323584..32958959 [GRCh37]
Chr2:2p22.3		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p22.3(chr2:32624578-32915356)x1 copy number loss not provided [RCV001259147] Chr2:32624578..32915356 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.9838C>T (p.Leu3280Phe) single nucleotide variant Hereditary breast ovarian cancer syndrome [RCV001374486] Chr2:32508117 [GRCh38]
Chr2:32733184 [GRCh37]
Chr2:2p22.3		 uncertain significance
GRCh37/hg19 2p23.2-21(chr2:29899368-42441440) copy number loss not specified [RCV002053089] Chr2:29899368..42441440 [GRCh37]
Chr2:2p23.2-21		 pathogenic
GRCh37/hg19 2p22.3(chr2:32746129-32913607) copy number loss not specified [RCV002053100] Chr2:32746129..32913607 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.5762A>G (p.Gln1921Arg) single nucleotide variant not specified [RCV004294951] Chr2:32468093 [GRCh38]
Chr2:32693161 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.11311A>G (p.Ile3771Val) single nucleotide variant not specified [RCV004305785] Chr2:32515732 [GRCh38]
Chr2:32740799 [GRCh37]
Chr2:2p22.3		 uncertain significance
GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1 copy number loss See cases [RCV002287563] Chr2:11504318..111365996 [GRCh37]
Chr2:2p25.1-q13		 pathogenic
NM_016252.4(BIRC6):c.5248T>C (p.Ser1750Pro) single nucleotide variant not specified [RCV004307187] Chr2:32464815 [GRCh38]
Chr2:32689883 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.2909G>T (p.Cys970Phe) single nucleotide variant not specified [RCV004312365] Chr2:32429182 [GRCh38]
Chr2:32654250 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.7583A>G (p.Tyr2528Cys) single nucleotide variant not specified [RCV004312210] Chr2:32482469 [GRCh38]
Chr2:32707537 [GRCh37]
Chr2:2p22.3		 uncertain significance
GRCh37/hg19 2p22.3(chr2:32194952-32826745)x4 copy number gain not provided [RCV002473855] Chr2:32194952..32826745 [GRCh37]
Chr2:2p22.3		 uncertain significance
GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3 copy number gain not provided [RCV002473946] Chr2:706460..35523639 [GRCh37]
Chr2:2p25.3-22.3		 pathogenic
NM_016252.4(BIRC6):c.4934A>G (p.Gln1645Arg) single nucleotide variant not specified [RCV004193765] Chr2:32463374 [GRCh38]
Chr2:32688442 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.9198G>A (p.Met3066Ile) single nucleotide variant not specified [RCV004087961] Chr2:32501879 [GRCh38]
Chr2:32726946 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.8836G>C (p.Val2946Leu) single nucleotide variant not specified [RCV004109713] Chr2:32499914 [GRCh38]
Chr2:32724981 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.10021A>G (p.Ile3341Val) single nucleotide variant not specified [RCV004200553] Chr2:32509778 [GRCh38]
Chr2:32734845 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.12451T>A (p.Ser4151Thr) single nucleotide variant not specified [RCV004193886] Chr2:32543400 [GRCh38]
Chr2:32768467 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.4015A>C (p.Thr1339Pro) single nucleotide variant not specified [RCV004100781] Chr2:32442135 [GRCh38]
Chr2:32667203 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.11255C>T (p.Thr3752Ile) single nucleotide variant not specified [RCV004093223] Chr2:32515676 [GRCh38]
Chr2:32740743 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.5015T>C (p.Val1672Ala) single nucleotide variant not specified [RCV004235330] Chr2:32464582 [GRCh38]
Chr2:32689650 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.9523A>G (p.Thr3175Ala) single nucleotide variant not specified [RCV004085545] Chr2:32505028 [GRCh38]
Chr2:32730095 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.10677G>C (p.Leu3559Phe) single nucleotide variant not specified [RCV004234718] Chr2:32515098 [GRCh38]
Chr2:32740165 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.7402A>G (p.Ile2468Val) single nucleotide variant not specified [RCV004140035] Chr2:32479611 [GRCh38]
Chr2:32704679 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.7591T>G (p.Tyr2531Asp) single nucleotide variant not provided [RCV002488694] Chr2:32482477 [GRCh38]
Chr2:32707545 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.8473G>T (p.Ala2825Ser) single nucleotide variant not specified [RCV004148994] Chr2:32499551 [GRCh38]
Chr2:32724618 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.1814A>G (p.Gln605Arg) single nucleotide variant not specified [RCV004192798] Chr2:32415105 [GRCh38]
Chr2:32640173 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.952C>G (p.Pro318Ala) single nucleotide variant not specified [RCV004215067] Chr2:32395511 [GRCh38]
Chr2:32620579 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.6005G>A (p.Arg2002Gln) single nucleotide variant not specified [RCV004085173] Chr2:32468661 [GRCh38]
Chr2:32693729 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.14453A>G (p.Asp4818Gly) single nucleotide variant not specified [RCV004187164] Chr2:32617783 [GRCh38]
Chr2:32842850 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.6620A>G (p.Asn2207Ser) single nucleotide variant not specified [RCV004113569] Chr2:32473139 [GRCh38]
Chr2:32698207 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.11306A>G (p.Gln3769Arg) single nucleotide variant not specified [RCV004171351] Chr2:32515727 [GRCh38]
Chr2:32740794 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.4490G>T (p.Gly1497Val) single nucleotide variant not specified [RCV004104221] Chr2:32448800 [GRCh38]
Chr2:32673868 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.5824A>G (p.Ile1942Val) single nucleotide variant not specified [RCV004202771] Chr2:32468480 [GRCh38]
Chr2:32693548 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.2091C>A (p.Asn697Lys) single nucleotide variant not specified [RCV004111154] Chr2:32415382 [GRCh38]
Chr2:32640450 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.3671T>C (p.Val1224Ala) single nucleotide variant not specified [RCV004137812] Chr2:32439547 [GRCh38]
Chr2:32664615 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.5642A>G (p.His1881Arg) single nucleotide variant not specified [RCV004085366] Chr2:32467973 [GRCh38]
Chr2:32693041 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.9460C>T (p.Pro3154Ser) single nucleotide variant not specified [RCV004140086] Chr2:32503197 [GRCh38]
Chr2:32728264 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.9547T>A (p.Leu3183Met) single nucleotide variant not specified [RCV004112144] Chr2:32505052 [GRCh38]
Chr2:32730119 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.8704C>T (p.Arg2902Cys) single nucleotide variant not specified [RCV004100999] Chr2:32499782 [GRCh38]
Chr2:32724849 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.2578A>G (p.Ile860Val) single nucleotide variant not specified [RCV004143566] Chr2:32415869 [GRCh38]
Chr2:32640937 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.6772A>C (p.Lys2258Gln) single nucleotide variant not specified [RCV004131948] Chr2:32476264 [GRCh38]
Chr2:32701332 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.2549A>G (p.Lys850Arg) single nucleotide variant not specified [RCV004208675] Chr2:32415840 [GRCh38]
Chr2:32640908 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.3352C>T (p.Pro1118Ser) single nucleotide variant not specified [RCV004148538] Chr2:32433747 [GRCh38]
Chr2:32658815 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.7534G>T (p.Val2512Phe) single nucleotide variant not specified [RCV004077386] Chr2:32481445 [GRCh38]
Chr2:32706513 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.5800C>T (p.Arg1934Cys) single nucleotide variant not specified [RCV004161908] Chr2:32468456 [GRCh38]
Chr2:32693524 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.11393T>G (p.Leu3798Arg) single nucleotide variant not specified [RCV004129452] Chr2:32518297 [GRCh38]
Chr2:32743364 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.6232A>G (p.Thr2078Ala) single nucleotide variant not specified [RCV004211101] Chr2:32469499 [GRCh38]
Chr2:32694567 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.19G>A (p.Ala7Thr) single nucleotide variant not specified [RCV004093277] Chr2:32357180 [GRCh38]
Chr2:32582248 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.7325C>G (p.Ala2442Gly) single nucleotide variant not specified [RCV004123414] Chr2:32479534 [GRCh38]
Chr2:32704602 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.7883A>C (p.Gln2628Pro) single nucleotide variant not specified [RCV004124113] Chr2:32487716 [GRCh38]
Chr2:32712783 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.3398G>A (p.Gly1133Glu) single nucleotide variant not specified [RCV004133819] Chr2:32433793 [GRCh38]
Chr2:32658861 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.9109T>C (p.Phe3037Leu) single nucleotide variant not specified [RCV004169767] Chr2:32501790 [GRCh38]
Chr2:32726857 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.499G>A (p.Val167Ile) single nucleotide variant not specified [RCV004229419] Chr2:32377761 [GRCh38]
Chr2:32602829 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.7283C>T (p.Ala2428Val) single nucleotide variant not specified [RCV004202404] Chr2:32479492 [GRCh38]
Chr2:32704560 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.6430A>G (p.Asn2144Asp) single nucleotide variant not specified [RCV004148108] Chr2:32470250 [GRCh38]
Chr2:32695318 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.9763A>C (p.Thr3255Pro) single nucleotide variant not specified [RCV004069216] Chr2:32508042 [GRCh38]
Chr2:32733109 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.2906C>A (p.Thr969Asn) single nucleotide variant not specified [RCV004076036] Chr2:32429179 [GRCh38]
Chr2:32654247 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.7694A>G (p.Gln2565Arg) single nucleotide variant not specified [RCV004162301] Chr2:32482580 [GRCh38]
Chr2:32707648 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.997G>A (p.Val333Ile) single nucleotide variant not specified [RCV004090966] Chr2:32395556 [GRCh38]
Chr2:32620624 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.11255C>A (p.Thr3752Asn) single nucleotide variant not specified [RCV004152147] Chr2:32515676 [GRCh38]
Chr2:32740743 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.6980G>A (p.Arg2327His) single nucleotide variant not specified [RCV004115122] Chr2:32477495 [GRCh38]
Chr2:32702563 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.4705A>T (p.Thr1569Ser) single nucleotide variant not specified [RCV004096000] Chr2:32453894 [GRCh38]
Chr2:32678962 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.13547A>G (p.Lys4516Arg) single nucleotide variant not specified [RCV004198371] Chr2:32595079 [GRCh38]
Chr2:32820146 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.4169G>A (p.Arg1390His) single nucleotide variant not specified [RCV004164085] Chr2:32442386 [GRCh38]
Chr2:32667454 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.1646G>A (p.Ser549Asn) single nucleotide variant not specified [RCV004185050] Chr2:32414937 [GRCh38]
Chr2:32640005 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.9857G>A (p.Arg3286Gln) single nucleotide variant not specified [RCV004201332] Chr2:32508136 [GRCh38]
Chr2:32733203 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.6917A>G (p.Glu2306Gly) single nucleotide variant not specified [RCV004115020] Chr2:32477432 [GRCh38]
Chr2:32702500 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.4162A>G (p.Ile1388Val) single nucleotide variant not specified [RCV004127648] Chr2:32442379 [GRCh38]
Chr2:32667447 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.13060A>C (p.Asn4354His) single nucleotide variant not specified [RCV004194016] Chr2:32549397 [GRCh38]
Chr2:32774464 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.11968C>G (p.Leu3990Val) single nucleotide variant not specified [RCV004097723] Chr2:32529698 [GRCh38]
Chr2:32754765 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.13708A>G (p.Asn4570Asp) single nucleotide variant not specified [RCV004194609] Chr2:32597846 [GRCh38]
Chr2:32822913 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.7502T>C (p.Ile2501Thr) single nucleotide variant not specified [RCV004102198] Chr2:32481413 [GRCh38]
Chr2:32706481 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.4462A>G (p.Met1488Val) single nucleotide variant not specified [RCV004152566] Chr2:32445646 [GRCh38]
Chr2:32670714 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.11485C>A (p.Pro3829Thr) single nucleotide variant not specified [RCV004091351] Chr2:32518389 [GRCh38]
Chr2:32743456 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.10690A>T (p.Met3564Leu) single nucleotide variant not specified [RCV004172505] Chr2:32515111 [GRCh38]
Chr2:32740178 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.1328C>T (p.Pro443Leu) single nucleotide variant not specified [RCV004159560] Chr2:32401533 [GRCh38]
Chr2:32626601 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.5189G>C (p.Gly1730Ala) single nucleotide variant not specified [RCV004187308] Chr2:32464756 [GRCh38]
Chr2:32689824 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.10955G>A (p.Ser3652Asn) single nucleotide variant not specified [RCV004137314] Chr2:32515376 [GRCh38]
Chr2:32740443 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.1330A>C (p.Ser444Arg) single nucleotide variant not specified [RCV004101108] Chr2:32401535 [GRCh38]
Chr2:32626603 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.13334A>G (p.Asp4445Gly) single nucleotide variant not specified [RCV004169404] Chr2:32575345 [GRCh38]
Chr2:32800412 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.11542A>G (p.Met3848Val) single nucleotide variant not specified [RCV004075775] Chr2:32518865 [GRCh38]
Chr2:32743932 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.2471A>G (p.Tyr824Cys) single nucleotide variant not specified [RCV004169717] Chr2:32415762 [GRCh38]
Chr2:32640830 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.14508G>T (p.Glu4836Asp) single nucleotide variant not specified [RCV004221381] Chr2:32617838 [GRCh38]
Chr2:32842905 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.13034C>G (p.Ser4345Cys) single nucleotide variant not specified [RCV004182788] Chr2:32549371 [GRCh38]
Chr2:32774438 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.8900A>G (p.Asn2967Ser) single nucleotide variant not specified [RCV004177415] Chr2:32499978 [GRCh38]
Chr2:32725045 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.1441G>C (p.Asp481His) single nucleotide variant not specified [RCV004177774] Chr2:32406521 [GRCh38]
Chr2:32631589 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.13465T>C (p.Tyr4489His) single nucleotide variant not specified [RCV004075464] Chr2:32594024 [GRCh38]
Chr2:32819091 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.4152T>A (p.Phe1384Leu) single nucleotide variant not specified [RCV004087596] Chr2:32442369 [GRCh38]
Chr2:32667437 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.6170A>G (p.Gln2057Arg) single nucleotide variant not specified [RCV004094433] Chr2:32469437 [GRCh38]
Chr2:32694505 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.6058A>C (p.Thr2020Pro) single nucleotide variant not specified [RCV004303308] Chr2:32468714 [GRCh38]
Chr2:32693782 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.10940T>C (p.Ile3647Thr) single nucleotide variant not specified [RCV004323011] Chr2:32515361 [GRCh38]
Chr2:32740428 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.11776C>T (p.Arg3926Cys) single nucleotide variant not specified [RCV004252066] Chr2:32525484 [GRCh38]
Chr2:32750551 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.13219G>T (p.Ala4407Ser) single nucleotide variant not specified [RCV004255519] Chr2:32575230 [GRCh38]
Chr2:32800297 [GRCh37]
Chr2:2p22.3		 likely benign
NM_016252.4(BIRC6):c.10969A>G (p.Ile3657Val) single nucleotide variant not specified [RCV004275735] Chr2:32515390 [GRCh38]
Chr2:32740457 [GRCh37]
Chr2:2p22.3		 likely benign
NM_016252.4(BIRC6):c.10607T>C (p.Met3536Thr) single nucleotide variant not specified [RCV004275052] Chr2:32515028 [GRCh38]
Chr2:32740095 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.10552G>A (p.Asp3518Asn) single nucleotide variant not specified [RCV004260351] Chr2:32513138 [GRCh38]
Chr2:32738205 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.10790A>G (p.Lys3597Arg) single nucleotide variant not specified [RCV004316548] Chr2:32515211 [GRCh38]
Chr2:32740278 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.13459A>G (p.Ile4487Val) single nucleotide variant not specified [RCV004256207] Chr2:32594018 [GRCh38]
Chr2:32819085 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.6155G>A (p.Ser2052Asn) single nucleotide variant not specified [RCV004267402] Chr2:32469422 [GRCh38]
Chr2:32694490 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.5878C>G (p.Pro1960Ala) single nucleotide variant not specified [RCV004294570] Chr2:32468534 [GRCh38]
Chr2:32693602 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.14354G>A (p.Arg4785Gln) single nucleotide variant not specified [RCV004275429] Chr2:32611542 [GRCh38]
Chr2:32836609 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.11398A>G (p.Thr3800Ala) single nucleotide variant not specified [RCV004283335] Chr2:32518302 [GRCh38]
Chr2:32743369 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.7519C>T (p.Pro2507Ser) single nucleotide variant not specified [RCV004272747] Chr2:32481430 [GRCh38]
Chr2:32706498 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.8470G>A (p.Gly2824Ser) single nucleotide variant not specified [RCV004274675] Chr2:32499548 [GRCh38]
Chr2:32724615 [GRCh37]
Chr2:2p22.3		 uncertain significance
GRCh38/hg38 2p22.3(chr2:32415095-33099301) copy number gain Anomalous pulmonary venous return [RCV003223567] Chr2:32415095..33099301 [GRCh38]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.8107A>G (p.Ser2703Gly) single nucleotide variant not specified [RCV004263609] Chr2:32490052 [GRCh38]
Chr2:32715119 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.5228A>C (p.His1743Pro) single nucleotide variant not specified [RCV004272405] Chr2:32464795 [GRCh38]
Chr2:32689863 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.8840C>T (p.Thr2947Ile) single nucleotide variant not specified [RCV004299982] Chr2:32499918 [GRCh38]
Chr2:32724985 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.11216G>C (p.Arg3739Thr) single nucleotide variant not specified [RCV004327903] Chr2:32515637 [GRCh38]
Chr2:32740704 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.11653A>T (p.Ser3885Cys) single nucleotide variant not specified [RCV004344471] Chr2:32524917 [GRCh38]
Chr2:32749984 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.13798C>T (p.Arg4600Cys) single nucleotide variant not specified [RCV004365152] Chr2:32597936 [GRCh38]
Chr2:32823003 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.13219G>A (p.Ala4407Thr) single nucleotide variant not specified [RCV004351065] Chr2:32575230 [GRCh38]
Chr2:32800297 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.2372T>C (p.Val791Ala) single nucleotide variant not specified [RCV004350811] Chr2:32415663 [GRCh38]
Chr2:32640731 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.13694A>G (p.Asn4565Ser) single nucleotide variant not specified [RCV004363138] Chr2:32597832 [GRCh38]
Chr2:32822899 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.2558A>G (p.Gln853Arg) single nucleotide variant BIRC6-related condition [RCV003420760]|not specified [RCV004362779] Chr2:32415849 [GRCh38]
Chr2:32640917 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.3446C>T (p.Ser1149Phe) single nucleotide variant not specified [RCV004335796] Chr2:32435532 [GRCh38]
Chr2:32660600 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.2933T>C (p.Ile978Thr) single nucleotide variant not specified [RCV004356089] Chr2:32429206 [GRCh38]
Chr2:32654274 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.3320A>G (p.Lys1107Arg) single nucleotide variant not specified [RCV004366118] Chr2:32433715 [GRCh38]
Chr2:32658783 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.13441A>C (p.Ile4481Leu) single nucleotide variant not specified [RCV004356698] Chr2:32594000 [GRCh38]
Chr2:32819067 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.5542A>G (p.Ile1848Val) single nucleotide variant not specified [RCV004359537] Chr2:32467710 [GRCh38]
Chr2:32692778 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.6662G>A (p.Ser2221Asn) single nucleotide variant not specified [RCV004343418] Chr2:32473181 [GRCh38]
Chr2:32698249 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.7453C>G (p.Leu2485Val) single nucleotide variant not specified [RCV004347861] Chr2:32481364 [GRCh38]
Chr2:32706432 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.10G>T (p.Gly4Cys) single nucleotide variant not specified [RCV004364158] Chr2:32357171 [GRCh38]
Chr2:32582239 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.3582A>G (p.Leu1194=) single nucleotide variant not provided [RCV003425571] Chr2:32436135 [GRCh38]
Chr2:32661203 [GRCh37]
Chr2:2p22.3		 likely benign
GRCh37/hg19 2p23.1-22.3(chr2:32083215-32684402)x1 copy number loss not provided [RCV003484627] Chr2:32083215..32684402 [GRCh37]
Chr2:2p23.1-22.3		 pathogenic
NM_016252.4(BIRC6):c.13518A>C (p.Glu4506Asp) single nucleotide variant BIRC6-related condition [RCV003405909] Chr2:32595050 [GRCh38]
Chr2:32820117 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.10716A>G (p.Gln3572=) single nucleotide variant BIRC6-related condition [RCV003929108]|not provided [RCV003425573] Chr2:32515137 [GRCh38]
Chr2:32740204 [GRCh37]
Chr2:2p22.3		 likely benign
NM_016252.4(BIRC6):c.3772T>G (p.Ser1258Ala) single nucleotide variant BIRC6-related condition [RCV003394479] Chr2:32439648 [GRCh38]
Chr2:32664716 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.9531A>G (p.Gln3177=) single nucleotide variant not provided [RCV003425572] Chr2:32505036 [GRCh38]
Chr2:32730103 [GRCh37]
Chr2:2p22.3		 likely benign
NM_016252.4(BIRC6):c.4940A>G (p.Gln1647Arg) single nucleotide variant not provided [RCV003407198] Chr2:32463380 [GRCh38]
Chr2:32688448 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.2017G>C (p.Asp673His) single nucleotide variant BIRC6-related condition [RCV003391411] Chr2:32415308 [GRCh38]
Chr2:32640376 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.3224G>A (p.Arg1075Gln) single nucleotide variant BIRC6-related condition [RCV003399522] Chr2:32431066 [GRCh38]
Chr2:32656134 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.2423A>G (p.Gln808Arg) single nucleotide variant not provided [RCV003407196] Chr2:32415714 [GRCh38]
Chr2:32640782 [GRCh37]
Chr2:2p22.3		 benign
NM_016252.4(BIRC6):c.2682G>A (p.Thr894=) single nucleotide variant BIRC6-related condition [RCV003938973]|not provided [RCV003407197] Chr2:32415973 [GRCh38]
Chr2:32641041 [GRCh37]
Chr2:2p22.3		 benign|likely benign
NM_016252.4(BIRC6):c.8106T>G (p.Thr2702=) single nucleotide variant not provided [RCV003407199] Chr2:32490051 [GRCh38]
Chr2:32715118 [GRCh37]
Chr2:2p22.3		 likely benign
NM_016252.4(BIRC6):c.11967C>T (p.Leu3989=) single nucleotide variant BIRC6-related condition [RCV003966386]|not provided [RCV003415543] Chr2:32529697 [GRCh38]
Chr2:32754764 [GRCh37]
Chr2:2p22.3		 likely benign
NM_016252.4(BIRC6):c.14498G>A (p.Gly4833Asp) single nucleotide variant BIRC6-related condition [RCV003946585]|not provided [RCV003415544] Chr2:32617828 [GRCh38]
Chr2:32842895 [GRCh37]
Chr2:2p22.3		 benign|likely benign
NM_016252.4(BIRC6):c.10280C>T (p.Ser3427Phe) single nucleotide variant BIRC6-related condition [RCV003397599] Chr2:32510568 [GRCh38]
Chr2:32735635 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.1158C>G (p.Asp386Glu) single nucleotide variant BIRC6-related condition [RCV003414364] Chr2:32401286 [GRCh38]
Chr2:32626354 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.9980+44del deletion not provided [RCV003663006] Chr2:32508277 [GRCh38]
Chr2:32733344 [GRCh37]
Chr2:2p22.3		 benign
GRCh37/hg19 2p22.3(chr2:32437298-34106470)x1 copy number loss not specified [RCV003986336] Chr2:32437298..34106470 [GRCh37]
Chr2:2p22.3		 uncertain significance
GRCh37/hg19 2p22.3(chr2:32703576-32971021)x1 copy number loss not specified [RCV003986325] Chr2:32703576..32971021 [GRCh37]
Chr2:2p22.3		 uncertain significance
GRCh37/hg19 2p23.1-21(chr2:30814984-42798684)x1 copy number loss not specified [RCV003986376] Chr2:30814984..42798684 [GRCh37]
Chr2:2p23.1-21		 pathogenic
NM_016252.4(BIRC6):c.682T>C (p.Leu228=) single nucleotide variant BIRC6-related condition [RCV003954771] Chr2:32388786 [GRCh38]
Chr2:32613854 [GRCh37]
Chr2:2p22.3		 likely benign
NM_016252.4(BIRC6):c.7944C>A (p.Ser2648=) single nucleotide variant not provided [RCV003993121] Chr2:32487777 [GRCh38]
Chr2:32712844 [GRCh37]
Chr2:2p22.3		 likely benign
NM_016252.4(BIRC6):c.5454C>T (p.Asp1818=) single nucleotide variant BIRC6-related condition [RCV003942271] Chr2:32467622 [GRCh38]
Chr2:32692690 [GRCh37]
Chr2:2p22.3		 likely benign
NM_016252.4(BIRC6):c.9702C>T (p.Thr3234=) single nucleotide variant BIRC6-related condition [RCV003971384] Chr2:32507981 [GRCh38]
Chr2:32733048 [GRCh37]
Chr2:2p22.3		 likely benign
NM_016252.4(BIRC6):c.12T>C (p.Gly4=) single nucleotide variant BIRC6-related condition [RCV003916796] Chr2:32357173 [GRCh38]
Chr2:32582241 [GRCh37]
Chr2:2p22.3		 benign
NM_016252.4(BIRC6):c.3494C>G (p.Ser1165Ter) single nucleotide variant BIRC6-related condition [RCV003904030] Chr2:32435580 [GRCh38]
Chr2:32660648 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.8570C>G (p.Ser2857Cys) single nucleotide variant BIRC6-related condition [RCV003919622] Chr2:32499648 [GRCh38]
Chr2:32724715 [GRCh37]
Chr2:2p22.3		 likely benign
NM_016252.4(BIRC6):c.12411G>A (p.Ala4137=) single nucleotide variant BIRC6-related condition [RCV003924445] Chr2:32543360 [GRCh38]
Chr2:32768427 [GRCh37]
Chr2:2p22.3		 likely benign
NM_016252.4(BIRC6):c.5313A>G (p.Gln1771=) single nucleotide variant BIRC6-related condition [RCV003982028] Chr2:32465121 [GRCh38]
Chr2:32690189 [GRCh37]
Chr2:2p22.3		 benign
NM_016252.4(BIRC6):c.13918C>T (p.Pro4640Ser) single nucleotide variant BIRC6-related condition [RCV003983439] Chr2:32599826 [GRCh38]
Chr2:32824893 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.3716G>T (p.Gly1239Val) single nucleotide variant BIRC6-related condition [RCV003926908] Chr2:32439592 [GRCh38]
Chr2:32664660 [GRCh37]
Chr2:2p22.3		 benign
NM_016252.4(BIRC6):c.14232C>T (p.Ile4744=) single nucleotide variant BIRC6-related condition [RCV003954958] Chr2:32607616 [GRCh38]
Chr2:32832683 [GRCh37]
Chr2:2p22.3		 benign
GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3 copy number gain See cases [RCV004442780] Chr2:12771..35541353 [GRCh37]
Chr2:2p25.3-22.3		 pathogenic
NM_016252.4(BIRC6):c.8349T>C (p.Pro2783=) single nucleotide variant BIRC6-related condition [RCV003919835] Chr2:32493548 [GRCh38]
Chr2:32718615 [GRCh37]
Chr2:2p22.3		 benign
NM_016252.4(BIRC6):c.2113A>G (p.Lys705Glu) single nucleotide variant BIRC6-related condition [RCV003899293] Chr2:32415404 [GRCh38]
Chr2:32640472 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.8469-23TC[7] microsatellite BIRC6-related condition [RCV003921848] Chr2:32499524..32499527 [GRCh38]
Chr2:32724591..32724594 [GRCh37]
Chr2:2p22.3		 likely benign
NM_016252.4(BIRC6):c.3500-10T>G single nucleotide variant BIRC6-related condition [RCV003931647] Chr2:32436043 [GRCh38]
Chr2:32661111 [GRCh37]
Chr2:2p22.3		 likely benign
NM_016252.4(BIRC6):c.5991G>A (p.Ala1997=) single nucleotide variant BIRC6-related condition [RCV003907009] Chr2:32468647 [GRCh38]
Chr2:32693715 [GRCh37]
Chr2:2p22.3		 likely benign
NM_016252.4(BIRC6):c.6270G>A (p.Arg2090=) single nucleotide variant BIRC6-related condition [RCV003929425] Chr2:32469537 [GRCh38]
Chr2:32694605 [GRCh37]
Chr2:2p22.3		 likely benign
NM_016252.4(BIRC6):c.8550C>T (p.Val2850=) single nucleotide variant BIRC6-related condition [RCV003979466] Chr2:32499628 [GRCh38]
Chr2:32724695 [GRCh37]
Chr2:2p22.3		 likely benign
NM_016252.4(BIRC6):c.8877A>G (p.Lys2959=) single nucleotide variant BIRC6-related condition [RCV003971413] Chr2:32499955 [GRCh38]
Chr2:32725022 [GRCh37]
Chr2:2p22.3		 likely benign
NM_016252.4(BIRC6):c.13993-6C>T single nucleotide variant BIRC6-related condition [RCV003929591] Chr2:32603000 [GRCh38]
Chr2:32828067 [GRCh37]
Chr2:2p22.3		 likely benign
NM_016252.4(BIRC6):c.13144+6T>G single nucleotide variant BIRC6-related condition [RCV003932064] Chr2:32549487 [GRCh38]
Chr2:32774554 [GRCh37]
Chr2:2p22.3		 benign
NM_016252.4(BIRC6):c.6051A>G (p.Thr2017=) single nucleotide variant BIRC6-related condition [RCV003917294] Chr2:32468707 [GRCh38]
Chr2:32693775 [GRCh37]
Chr2:2p22.3		 likely benign
NM_016252.4(BIRC6):c.12570A>G (p.Gly4190=) single nucleotide variant BIRC6-related condition [RCV003921993] Chr2:32543519 [GRCh38]
Chr2:32768586 [GRCh37]
Chr2:2p22.3		 likely benign
NM_016252.4(BIRC6):c.4144C>A (p.Arg1382=) single nucleotide variant BIRC6-related condition [RCV003973859] Chr2:32442361 [GRCh38]
Chr2:32667429 [GRCh37]
Chr2:2p22.3		 benign
NM_016252.4(BIRC6):c.1598A>G (p.Lys533Arg) single nucleotide variant BIRC6-related condition [RCV003909229] Chr2:32414889 [GRCh38]
Chr2:32639957 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.2844C>G (p.Gly948=) single nucleotide variant BIRC6-related condition [RCV003931436] Chr2:32416135 [GRCh38]
Chr2:32641203 [GRCh37]
Chr2:2p22.3		 likely benign
NM_016252.4(BIRC6):c.13231C>T (p.Leu4411=) single nucleotide variant BIRC6-related condition [RCV003931456] Chr2:32575242 [GRCh38]
Chr2:32800309 [GRCh37]
Chr2:2p22.3		 likely benign
NM_016252.4(BIRC6):c.11207C>A (p.Thr3736Asn) single nucleotide variant BIRC6-related condition [RCV003931462] Chr2:32515628 [GRCh38]
Chr2:32740695 [GRCh37]
Chr2:2p22.3		 benign
NM_016252.4(BIRC6):c.13062T>C (p.Asn4354=) single nucleotide variant BIRC6-related condition [RCV003923984] Chr2:32549399 [GRCh38]
Chr2:32774466 [GRCh37]
Chr2:2p22.3		 likely benign
NM_016252.4(BIRC6):c.1884G>A (p.Pro628=) single nucleotide variant BIRC6-related condition [RCV003952055] Chr2:32415175 [GRCh38]
Chr2:32640243 [GRCh37]
Chr2:2p22.3		 likely benign
NM_016252.4(BIRC6):c.2037A>G (p.Leu679=) single nucleotide variant BIRC6-related condition [RCV003974089] Chr2:32415328 [GRCh38]
Chr2:32640396 [GRCh37]
Chr2:2p22.3		 benign
NM_016252.4(BIRC6):c.3825T>C (p.Asn1275=) single nucleotide variant BIRC6-related condition [RCV003979789] Chr2:32441343 [GRCh38]
Chr2:32666411 [GRCh37]
Chr2:2p22.3		 benign
NM_016252.4(BIRC6):c.5610A>G (p.Arg1870=) single nucleotide variant BIRC6-related condition [RCV003931662] Chr2:32467941 [GRCh38]
Chr2:32693009 [GRCh37]
Chr2:2p22.3		 likely benign
NM_016252.4(BIRC6):c.12094+4T>A single nucleotide variant BIRC6-related condition [RCV003964270] Chr2:32529828 [GRCh38]
Chr2:32754895 [GRCh37]
Chr2:2p22.3		 likely benign
NM_016252.4(BIRC6):c.10650T>C (p.Cys3550=) single nucleotide variant BIRC6-related condition [RCV003974671] Chr2:32515071 [GRCh38]
Chr2:32740138 [GRCh37]
Chr2:2p22.3		 benign
NM_016252.4(BIRC6):c.12192C>T (p.Thr4064=) single nucleotide variant BIRC6-related condition [RCV003919596] Chr2:32531452 [GRCh38]
Chr2:32756519 [GRCh37]
Chr2:2p22.3		 benign
NM_016252.4(BIRC6):c.7697-3T>C single nucleotide variant BIRC6-related condition [RCV003929640] Chr2:32485640 [GRCh38]
Chr2:32710707 [GRCh37]
Chr2:2p22.3		 benign
NM_016252.4(BIRC6):c.6063G>A (p.Glu2021=) single nucleotide variant BIRC6-related condition [RCV003923850] Chr2:32468719 [GRCh38]
Chr2:32693787 [GRCh37]
Chr2:2p22.3		 benign
NM_016252.4(BIRC6):c.7094C>T (p.Thr2365Met) single nucleotide variant BIRC6-related condition [RCV003904392] Chr2:32478660 [GRCh38]
Chr2:32703728 [GRCh37]
Chr2:2p22.3		 likely benign
NM_016252.4(BIRC6):c.11032A>G (p.Ile3678Val) single nucleotide variant not provided [RCV003885876] Chr2:32515453 [GRCh38]
Chr2:32740520 [GRCh37]
Chr2:2p22.3		 likely benign
NM_016252.4(BIRC6):c.14294A>G (p.Glu4765Gly) single nucleotide variant not provided [RCV003885877] Chr2:32611482 [GRCh38]
Chr2:32836549 [GRCh37]
Chr2:2p22.3		 likely benign
NM_016252.4(BIRC6):c.8469-23TC[10] microsatellite BIRC6-related condition [RCV003919536] Chr2:32499523..32499524 [GRCh38]
Chr2:32724590..32724591 [GRCh37]
Chr2:2p22.3		 benign
NM_016252.4(BIRC6):c.3075A>G (p.Leu1025=) single nucleotide variant BIRC6-related condition [RCV003959666] Chr2:32430917 [GRCh38]
Chr2:32655985 [GRCh37]
Chr2:2p22.3		 likely benign
NM_016252.4(BIRC6):c.8328A>G (p.Gln2776=) single nucleotide variant BIRC6-related condition [RCV003912315] Chr2:32491546 [GRCh38]
Chr2:32716613 [GRCh37]
Chr2:2p22.3		 likely benign
NM_016252.4(BIRC6):c.13284A>T (p.Glu4428Asp) single nucleotide variant BIRC6-related condition [RCV003921945] Chr2:32575295 [GRCh38]
Chr2:32800362 [GRCh37]
Chr2:2p22.3		 benign
NM_016252.4(BIRC6):c.12795C>T (p.Ser4265=) single nucleotide variant BIRC6-related condition [RCV003921925] Chr2:32545845 [GRCh38]
Chr2:32770912 [GRCh37]
Chr2:2p22.3		 likely benign
NM_016252.4(BIRC6):c.6252A>G (p.Gln2084=) single nucleotide variant BIRC6-related condition [RCV003951387] Chr2:32469519 [GRCh38]
Chr2:32694587 [GRCh37]
Chr2:2p22.3		 likely benign
NM_016252.4(BIRC6):c.12864T>C (p.Tyr4288=) single nucleotide variant BIRC6-related condition [RCV003969227] Chr2:32547903 [GRCh38]
Chr2:32772970 [GRCh37]
Chr2:2p22.3		 likely benign
NM_016252.4(BIRC6):c.1621A>C (p.Asn541His) single nucleotide variant not specified [RCV004431413] Chr2:32414912 [GRCh38]
Chr2:32639980 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.182G>A (p.Gly61Asp) single nucleotide variant not specified [RCV004431414] Chr2:32357343 [GRCh38]
Chr2:32582411 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.1881A>C (p.Leu627Phe) single nucleotide variant not specified [RCV004431415] Chr2:32415172 [GRCh38]
Chr2:32640240 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.1963A>C (p.Lys655Gln) single nucleotide variant not specified [RCV004431416] Chr2:32415254 [GRCh38]
Chr2:32640322 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.3088C>T (p.Arg1030Cys) single nucleotide variant not specified [RCV004431421] Chr2:32430930 [GRCh38]
Chr2:32655998 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.3692G>A (p.Gly1231Glu) single nucleotide variant not specified [RCV004431426] Chr2:32439568 [GRCh38]
Chr2:32664636 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.5846G>A (p.Ser1949Asn) single nucleotide variant not specified [RCV004431433] Chr2:32468502 [GRCh38]
Chr2:32693570 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.5863T>A (p.Tyr1955Asn) single nucleotide variant not specified [RCV004431434] Chr2:32468519 [GRCh38]
Chr2:32693587 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.6511G>A (p.Val2171Ile) single nucleotide variant not specified [RCV004431438] Chr2:32471043 [GRCh38]
Chr2:32696111 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.6574G>T (p.Ala2192Ser) single nucleotide variant not specified [RCV004431439] Chr2:32471106 [GRCh38]
Chr2:32696174 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.6940C>A (p.Pro2314Thr) single nucleotide variant not specified [RCV004431442] Chr2:32477455 [GRCh38]
Chr2:32702523 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.8539A>G (p.Asn2847Asp) single nucleotide variant not specified [RCV004431453] Chr2:32499617 [GRCh38]
Chr2:32724684 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.8950G>C (p.Val2984Leu) single nucleotide variant not specified [RCV004431454] Chr2:32500028 [GRCh38]
Chr2:32725095 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.11332C>A (p.Gln3778Lys) single nucleotide variant not specified [RCV004429325] Chr2:32515753 [GRCh38]
Chr2:32740820 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.13391C>A (p.Pro4464Gln) single nucleotide variant not specified [RCV004429335] Chr2:32593950 [GRCh38]
Chr2:32819017 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.11197G>A (p.Ala3733Thr) single nucleotide variant not specified [RCV004429324] Chr2:32515618 [GRCh38]
Chr2:32740685 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.12307G>C (p.Val4103Leu) single nucleotide variant not specified [RCV004429331] Chr2:32543256 [GRCh38]
Chr2:32768323 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.13028A>G (p.Gln4343Arg) single nucleotide variant not specified [RCV004429334] Chr2:32549365 [GRCh38]
Chr2:32774432 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.14519A>G (p.His4840Arg) single nucleotide variant not specified [RCV004429344] Chr2:32617849 [GRCh38]
Chr2:32842916 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.2225G>A (p.Gly742Glu) single nucleotide variant not specified [RCV004431418] Chr2:32415516 [GRCh38]
Chr2:32640584 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.2233T>G (p.Leu745Val) single nucleotide variant not specified [RCV004431419] Chr2:32415524 [GRCh38]
Chr2:32640592 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.3556G>A (p.Val1186Ile) single nucleotide variant not specified [RCV004431425] Chr2:32436109 [GRCh38]
Chr2:32661177 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.5434T>G (p.Leu1812Val) single nucleotide variant not specified [RCV004431432] Chr2:32467602 [GRCh38]
Chr2:32692670 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.6627C>G (p.His2209Gln) single nucleotide variant not specified [RCV004431440] Chr2:32473146 [GRCh38]
Chr2:32698214 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.7646C>A (p.Ala2549Glu) single nucleotide variant not specified [RCV004431446] Chr2:32482532 [GRCh38]
Chr2:32707600 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.9856C>T (p.Arg3286Trp) single nucleotide variant not specified [RCV004431458] Chr2:32508135 [GRCh38]
Chr2:32733202 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.3461A>G (p.Asn1154Ser) single nucleotide variant not specified [RCV004431422] Chr2:32435547 [GRCh38]
Chr2:32660615 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.4682T>C (p.Leu1561Ser) single nucleotide variant not specified [RCV004431428] Chr2:32453871 [GRCh38]
Chr2:32678939 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.5177A>G (p.Gln1726Arg) single nucleotide variant not specified [RCV004431429] Chr2:32464744 [GRCh38]
Chr2:32689812 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.7105A>G (p.Ile2369Val) single nucleotide variant not specified [RCV004431443] Chr2:32478671 [GRCh38]
Chr2:32703739 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.7828A>G (p.Thr2610Ala) single nucleotide variant not specified [RCV004431448] Chr2:32487661 [GRCh38]
Chr2:32712728 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.9154A>G (p.Met3052Val) single nucleotide variant not specified [RCV004431457] Chr2:32501835 [GRCh38]
Chr2:32726902 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.10311G>T (p.Gln3437His) single nucleotide variant not specified [RCV004429319] Chr2:32510599 [GRCh38]
Chr2:32735666 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.10441A>G (p.Thr3481Ala) single nucleotide variant not specified [RCV004429320] Chr2:32513027 [GRCh38]
Chr2:32738094 [GRCh37]
Chr2:2p22.3		 likely benign
NM_016252.4(BIRC6):c.11092A>G (p.Ile3698Val) single nucleotide variant not specified [RCV004429323] Chr2:32515513 [GRCh38]
Chr2:32740580 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.1178C>T (p.Ser393Leu) single nucleotide variant not specified [RCV004429326] Chr2:32401306 [GRCh38]
Chr2:32626374 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.12079C>G (p.Leu4027Val) single nucleotide variant not specified [RCV004429328] Chr2:32529809 [GRCh38]
Chr2:32754876 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.13637A>G (p.Asp4546Gly) single nucleotide variant not specified [RCV004429337] Chr2:32597775 [GRCh38]
Chr2:32822842 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.14413C>T (p.Arg4805Cys) single nucleotide variant not specified [RCV004429341] Chr2:32617743 [GRCh38]
Chr2:32842810 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.14447G>A (p.Gly4816Asp) single nucleotide variant not specified [RCV004429342] Chr2:32617777 [GRCh38]
Chr2:32842844 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.160G>C (p.Glu54Gln) single nucleotide variant not specified [RCV004429345] Chr2:32357321 [GRCh38]
Chr2:32582389 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.13729C>T (p.Arg4577Cys) single nucleotide variant not specified [RCV004429338] Chr2:32597867 [GRCh38]
Chr2:32822934 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.7365G>T (p.Gln2455His) single nucleotide variant not specified [RCV004431444] Chr2:32479574 [GRCh38]
Chr2:32704642 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.7652C>T (p.Thr2551Met) single nucleotide variant not specified [RCV004431447] Chr2:32482538 [GRCh38]
Chr2:32707606 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.9071A>C (p.His3024Pro) single nucleotide variant not specified [RCV004431455] Chr2:32501752 [GRCh38]
Chr2:32726819 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.13502A>G (p.Glu4501Gly) single nucleotide variant not specified [RCV004429336] Chr2:32595034 [GRCh38]
Chr2:32820101 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.14266C>T (p.His4756Tyr) single nucleotide variant not specified [RCV004429340] Chr2:32611454 [GRCh38]
Chr2:32836521 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.2977G>C (p.Glu993Gln) single nucleotide variant not specified [RCV004431420] Chr2:32429250 [GRCh38]
Chr2:32654318 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.5890G>A (p.Val1964Ile) single nucleotide variant not specified [RCV004431435] Chr2:32468546 [GRCh38]
Chr2:32693614 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.6073A>G (p.Thr2025Ala) single nucleotide variant not specified [RCV004431436] Chr2:32468729 [GRCh38]
Chr2:32693797 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.80G>A (p.Arg27Gln) single nucleotide variant not specified [RCV004431450] Chr2:32357241 [GRCh38]
Chr2:32582309 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.8482A>G (p.Thr2828Ala) single nucleotide variant not specified [RCV004431452] Chr2:32499560 [GRCh38]
Chr2:32724627 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.9130A>G (p.Ser3044Gly) single nucleotide variant not specified [RCV004431456] Chr2:32501811 [GRCh38]
Chr2:32726878 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.11050G>A (p.Ala3684Thr) single nucleotide variant not specified [RCV004429322] Chr2:32515471 [GRCh38]
Chr2:32740538 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.11972A>G (p.Tyr3991Cys) single nucleotide variant not specified [RCV004429327] Chr2:32529702 [GRCh38]
Chr2:32754769 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.1247A>G (p.Lys416Arg) single nucleotide variant not specified [RCV004429332] Chr2:32401375 [GRCh38]
Chr2:32626443 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.12613T>G (p.Ser4205Ala) single nucleotide variant not specified [RCV004429333] Chr2:32545663 [GRCh38]
Chr2:32770730 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.14051A>G (p.Gln4684Arg) single nucleotide variant not specified [RCV004429339] Chr2:32603064 [GRCh38]
Chr2:32828131 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.12160G>T (p.Asp4054Tyr) single nucleotide variant not specified [RCV004429329] Chr2:32531420 [GRCh38]
Chr2:32756487 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.12272A>G (p.Tyr4091Cys) single nucleotide variant not specified [RCV004429330] Chr2:32531532 [GRCh38]
Chr2:32756599 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.3507A>T (p.Arg1169Ser) single nucleotide variant not specified [RCV004431424] Chr2:32436060 [GRCh38]
Chr2:32661128 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.5198T>C (p.Ile1733Thr) single nucleotide variant not specified [RCV004431430] Chr2:32464765 [GRCh38]
Chr2:32689833 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.8003G>A (p.Ser2668Asn) single nucleotide variant not specified [RCV004431449] Chr2:32488622 [GRCh38]
Chr2:32713689 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.1982G>C (p.Gly661Ala) single nucleotide variant not specified [RCV004431417] Chr2:32415273 [GRCh38]
Chr2:32640341 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.3506G>T (p.Arg1169Ile) single nucleotide variant not specified [RCV004431423] Chr2:32436059 [GRCh38]
Chr2:32661127 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.5260C>G (p.Pro1754Ala) single nucleotide variant not specified [RCV004431431] Chr2:32465068 [GRCh38]
Chr2:32690136 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.8138A>G (p.Asn2713Ser) single nucleotide variant not specified [RCV004431451] Chr2:32490083 [GRCh38]
Chr2:32715150 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.23C>T (p.Ala8Val) single nucleotide variant not specified [RCV004355517] Chr2:32357184 [GRCh38]
Chr2:32582252 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.8575G>A (p.Val2859Met) single nucleotide variant not specified [RCV004350642] Chr2:32499653 [GRCh38]
Chr2:32724720 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.2566A>G (p.Ile856Val) single nucleotide variant not specified [RCV004351877] Chr2:32415857 [GRCh38]
Chr2:32640925 [GRCh37]
Chr2:2p22.3		 uncertain significance
NM_016252.4(BIRC6):c.3347A>G (p.Asn1116Ser) single nucleotide variant not specified [RCV004347228] Chr2:32433742 [GRCh38]
Chr2:32658810 [GRCh37]
Chr2:2p22.3		 uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR218-2hsa-miR-218-5pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCRNon-Functional MTI19890957

Predicted Target Of
Summary Value
Count of predictions:1228
Count of miRNA genes:792
Interacting mature miRNAs:928
Transcripts:ENST00000421745, ENST00000431454, ENST00000444173, ENST00000461788, ENST00000462504, ENST00000465130, ENST00000466527, ENST00000470250, ENST00000471232, ENST00000483194, ENST00000496555, ENST00000497023
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
RH81018  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37232,819,941 - 32,820,143UniSTSGRCh37
Build 36232,673,445 - 32,673,647RGDNCBI36
Celera232,664,771 - 32,664,973RGD
Cytogenetic Map2p22.3UniSTS
HuRef232,559,606 - 32,559,808UniSTS
GeneMap99-GB4 RH Map2100.63UniSTS
RH99067  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37232,686,813 - 32,687,001UniSTSGRCh37
Build 36232,540,317 - 32,540,505RGDNCBI36
Celera232,531,595 - 32,531,783RGD
Cytogenetic Map2p22.3UniSTS
HuRef232,425,834 - 32,426,022UniSTS
GeneMap99-GB4 RH Map2101.67UniSTS
SHGC-58506  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37232,701,611 - 32,701,887UniSTSGRCh37
Build 36232,555,115 - 32,555,391RGDNCBI36
Celera232,546,394 - 32,546,670RGD
Cytogenetic Map2p22.3UniSTS
HuRef232,440,639 - 32,440,915UniSTS
RH104087  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37232,774,508 - 32,774,697UniSTSGRCh37
Build 36232,628,012 - 32,628,201RGDNCBI36
Celera232,619,301 - 32,619,490RGD
Cytogenetic Map2p22.3UniSTS
HuRef232,513,257 - 32,513,446UniSTS
GeneMap99-GB4 RH Map2102.2UniSTS
RH120618  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37232,678,419 - 32,678,704UniSTSGRCh37
Build 36232,531,923 - 32,532,208RGDNCBI36
Celera232,523,202 - 32,523,487RGD
Cytogenetic Map2p22.3UniSTS
HuRef232,417,315 - 32,417,600UniSTS
RH122637  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37232,743,014 - 32,743,361UniSTSGRCh37
Build 36232,596,518 - 32,596,865RGDNCBI36
Celera232,587,805 - 32,588,152RGD
Cytogenetic Map2p22.3UniSTS
HuRef232,481,756 - 32,482,103UniSTS
D2S1883  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37232,740,665 - 32,740,790UniSTSGRCh37
Build 36232,594,169 - 32,594,294RGDNCBI36
Celera232,585,455 - 32,585,580RGD
Cytogenetic Map2p22.3UniSTS
HuRef232,479,406 - 32,479,531UniSTS
SHGC-37671  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37232,753,898 - 32,754,003UniSTSGRCh37
Build 36232,607,402 - 32,607,507RGDNCBI36
Celera232,598,689 - 32,598,794RGD
Cytogenetic Map2p22.3UniSTS
HuRef232,492,641 - 32,492,746UniSTS
GeneMap99-G3 RH Map21385.0UniSTS
PMC166414P4  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37232,768,428 - 32,768,541UniSTSGRCh37
Build 36232,621,932 - 32,622,045RGDNCBI36
Celera232,613,220 - 32,613,333RGD
Cytogenetic Map2p22.3UniSTS
HuRef232,507,176 - 32,507,289UniSTS
A004S04  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37232,843,778 - 32,843,937UniSTSGRCh37
Build 36232,697,282 - 32,697,441RGDNCBI36
Celera232,688,601 - 32,688,760RGD
Cytogenetic Map2p22.3UniSTS
HuRef232,583,446 - 32,583,605UniSTS
GeneMap99-GB4 RH Map2128.2UniSTS
Whitehead-RH Map2170.3UniSTS
NCBI RH Map2215.8UniSTS
STS-AA018958  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37232,746,734 - 32,746,943UniSTSGRCh37
Build 36232,600,238 - 32,600,447RGDNCBI36
Celera232,591,525 - 32,591,734RGD
Cytogenetic Map2p22.3UniSTS
HuRef232,485,477 - 32,485,686UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1911 1358 1259 240 1165 125 3646 1060 1626 216 1344 1554 129 980 2169 4
Low 528 1621 467 384 778 340 710 1133 2107 203 116 59 46 1 224 619 1 2
Below cutoff 12 8 4 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001378125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_016252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005264450 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005264451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005264452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005264453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005264454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005264455 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006712054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006712055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006712056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011533003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011533005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445182 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054343176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001738858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_244950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA315620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB033115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC079837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF265555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM674459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX345326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX371410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX411219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA418956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000421745   ⟹   ENSP00000393596
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl232,357,023 - 32,618,878 (+)Ensembl
RefSeq Acc Id: ENST00000431454   ⟹   ENSP00000393590
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl232,436,075 - 32,442,380 (+)Ensembl
RefSeq Acc Id: ENST00000444173   ⟹   ENSP00000413090
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl232,433,648 - 32,441,435 (+)Ensembl
RefSeq Acc Id: ENST00000461788
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl232,515,741 - 32,519,219 (+)Ensembl
RefSeq Acc Id: ENST00000462504
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl232,472,992 - 32,476,281 (+)Ensembl
RefSeq Acc Id: ENST00000465130
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl232,602,497 - 32,611,581 (+)Ensembl
RefSeq Acc Id: ENST00000466527
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl232,388,811 - 32,401,419 (+)Ensembl
RefSeq Acc Id: ENST00000470250
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl232,575,291 - 32,594,310 (+)Ensembl
RefSeq Acc Id: ENST00000471232
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl232,524,758 - 32,618,876 (+)Ensembl
RefSeq Acc Id: ENST00000483194
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl232,443,426 - 32,449,185 (+)Ensembl
RefSeq Acc Id: ENST00000496555
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl232,509,679 - 32,513,089 (+)Ensembl
RefSeq Acc Id: ENST00000497023
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl232,502,860 - 32,505,355 (+)Ensembl
RefSeq Acc Id: ENST00000648282   ⟹   ENSP00000498175
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl232,357,325 - 32,524,908 (+)Ensembl
RefSeq Acc Id: ENST00000700518   ⟹   ENSP00000515025
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl232,357,162 - 32,619,571 (+)Ensembl
RefSeq Acc Id: ENST00000700519   ⟹   ENSP00000515026
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl232,357,162 - 32,619,571 (+)Ensembl
RefSeq Acc Id: NM_001378125   ⟹   NP_001365054
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38232,357,216 - 32,618,878 (+)NCBI
T2T-CHM13v2.0232,405,729 - 32,667,526 (+)NCBI
Sequence:
RefSeq Acc Id: NM_016252   ⟹   NP_057336
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38232,357,023 - 32,618,878 (+)NCBI
GRCh37232,581,735 - 32,843,966 (+)NCBI
Build 36232,435,600 - 32,697,470 (+)NCBI Archive
Celera232,426,891 - 32,688,789 (+)RGD
HuRef232,320,949 - 32,583,634 (+)RGD
CHM1_1232,512,260 - 32,774,075 (+)NCBI
T2T-CHM13v2.0232,405,536 - 32,667,526 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005264450   ⟹   XP_005264507
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38232,357,023 - 32,618,878 (+)NCBI
GRCh37232,581,735 - 32,843,966 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005264451   ⟹   XP_005264508
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38232,357,023 - 32,618,878 (+)NCBI
GRCh37232,581,735 - 32,843,966 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005264452   ⟹   XP_005264509
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38232,357,023 - 32,618,878 (+)NCBI
GRCh37232,581,735 - 32,843,966 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005264453   ⟹   XP_005264510
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38232,357,023 - 32,618,878 (+)NCBI
GRCh37232,581,735 - 32,843,966 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005264455   ⟹   XP_005264512
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38232,357,023 - 32,618,878 (+)NCBI
GRCh37232,581,735 - 32,843,966 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006712054   ⟹   XP_006712117
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38232,357,023 - 32,618,878 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006712055   ⟹   XP_006712118
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38232,357,023 - 32,618,878 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006712056   ⟹   XP_006712119
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38232,357,023 - 32,618,878 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011533003   ⟹   XP_011531305
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38232,358,321 - 32,618,878 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017004556   ⟹   XP_016860045
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38232,357,023 - 32,618,878 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017004557   ⟹   XP_016860046
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38232,357,023 - 32,618,878 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017004558   ⟹   XP_016860047
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38232,357,023 - 32,618,878 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047445158   ⟹   XP_047301114
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38232,357,023 - 32,618,878 (+)NCBI
RefSeq Acc Id: XM_047445159   ⟹   XP_047301115
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38232,357,023 - 32,618,878 (+)NCBI
RefSeq Acc Id: XM_047445160   ⟹   XP_047301116
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38232,357,023 - 32,618,878 (+)NCBI
RefSeq Acc Id: XM_047445161   ⟹   XP_047301117
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38232,357,023 - 32,618,878 (+)NCBI
RefSeq Acc Id: XM_047445162   ⟹   XP_047301118
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38232,357,023 - 32,618,878 (+)NCBI
RefSeq Acc Id: XM_047445163   ⟹   XP_047301119
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38232,357,023 - 32,618,878 (+)NCBI
RefSeq Acc Id: XM_047445164   ⟹   XP_047301120
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38232,357,023 - 32,618,878 (+)NCBI
RefSeq Acc Id: XM_047445165   ⟹   XP_047301121
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38232,357,023 - 32,618,878 (+)NCBI
RefSeq Acc Id: XM_047445166   ⟹   XP_047301122
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38232,357,023 - 32,618,878 (+)NCBI
RefSeq Acc Id: XM_047445167   ⟹   XP_047301123
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38232,357,023 - 32,618,878 (+)NCBI
RefSeq Acc Id: XM_047445168   ⟹   XP_047301124
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38232,357,023 - 32,618,878 (+)NCBI
RefSeq Acc Id: XM_047445169   ⟹   XP_047301125
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38232,357,023 - 32,618,878 (+)NCBI
RefSeq Acc Id: XM_047445170   ⟹   XP_047301126
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38232,357,023 - 32,618,878 (+)NCBI
RefSeq Acc Id: XM_047445171   ⟹   XP_047301127
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38232,357,023 - 32,618,878 (+)NCBI
RefSeq Acc Id: XM_047445172   ⟹   XP_047301128
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38232,357,023 - 32,618,878 (+)NCBI
RefSeq Acc Id: XM_047445173   ⟹   XP_047301129
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38232,357,023 - 32,618,878 (+)NCBI
RefSeq Acc Id: XM_047445174   ⟹   XP_047301130
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38232,357,023 - 32,618,878 (+)NCBI
RefSeq Acc Id: XM_047445175   ⟹   XP_047301131
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38232,357,023 - 32,618,878 (+)NCBI
RefSeq Acc Id: XM_047445176   ⟹   XP_047301132
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38232,357,023 - 32,618,878 (+)NCBI
RefSeq Acc Id: XM_047445177   ⟹   XP_047301133
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38232,357,023 - 32,618,878 (+)NCBI
RefSeq Acc Id: XM_047445178   ⟹   XP_047301134
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38232,357,023 - 32,618,878 (+)NCBI
RefSeq Acc Id: XM_047445179   ⟹   XP_047301135
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38232,357,023 - 32,618,878 (+)NCBI
RefSeq Acc Id: XM_047445180   ⟹   XP_047301136
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38232,357,023 - 32,618,878 (+)NCBI
RefSeq Acc Id: XM_047445181   ⟹   XP_047301137
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38232,357,023 - 32,618,878 (+)NCBI
RefSeq Acc Id: XM_047445182   ⟹   XP_047301138
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38232,357,023 - 32,618,878 (+)NCBI
RefSeq Acc Id: XM_047445183   ⟹   XP_047301139
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38232,357,023 - 32,618,878 (+)NCBI
RefSeq Acc Id: XM_047445184   ⟹   XP_047301140
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38232,357,023 - 32,618,878 (+)NCBI
RefSeq Acc Id: XM_047445185   ⟹   XP_047301141
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38232,357,023 - 32,618,878 (+)NCBI
RefSeq Acc Id: XM_047445186   ⟹   XP_047301142
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38232,357,023 - 32,618,878 (+)NCBI
RefSeq Acc Id: XM_047445187   ⟹   XP_047301143
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38232,357,023 - 32,618,878 (+)NCBI
RefSeq Acc Id: XM_047445188   ⟹   XP_047301144
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38232,357,023 - 32,618,878 (+)NCBI
RefSeq Acc Id: XM_047445189   ⟹   XP_047301145
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38232,357,023 - 32,618,878 (+)NCBI
RefSeq Acc Id: XM_047445190   ⟹   XP_047301146
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38232,357,023 - 32,618,878 (+)NCBI
RefSeq Acc Id: XM_047445191   ⟹   XP_047301147
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38232,357,023 - 32,618,878 (+)NCBI
RefSeq Acc Id: XM_047445192   ⟹   XP_047301148
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38232,358,321 - 32,618,878 (+)NCBI
RefSeq Acc Id: XM_047445193   ⟹   XP_047301149
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38232,358,321 - 32,618,878 (+)NCBI
RefSeq Acc Id: XM_054343129   ⟹   XP_054199104
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0232,405,536 - 32,667,526 (+)NCBI
RefSeq Acc Id: XM_054343130   ⟹   XP_054199105
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0232,405,536 - 32,667,526 (+)NCBI
RefSeq Acc Id: XM_054343131   ⟹   XP_054199106
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0232,405,536 - 32,667,526 (+)NCBI
RefSeq Acc Id: XM_054343132   ⟹   XP_054199107
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0232,405,536 - 32,667,526 (+)NCBI
RefSeq Acc Id: XM_054343133   ⟹   XP_054199108
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0232,405,536 - 32,667,526 (+)NCBI
RefSeq Acc Id: XM_054343134   ⟹   XP_054199109
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0232,405,536 - 32,667,526 (+)NCBI
RefSeq Acc Id: XM_054343135   ⟹   XP_054199110
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0232,405,536 - 32,667,526 (+)NCBI
RefSeq Acc Id: XM_054343136   ⟹   XP_054199111
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0232,405,536 - 32,667,526 (+)NCBI
RefSeq Acc Id: XM_054343137   ⟹   XP_054199112
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0232,405,536 - 32,667,526 (+)NCBI
RefSeq Acc Id: XM_054343138   ⟹   XP_054199113
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0232,405,536 - 32,667,526 (+)NCBI
RefSeq Acc Id: XM_054343139   ⟹   XP_054199114
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0232,405,536 - 32,667,526 (+)NCBI
RefSeq Acc Id: XM_054343140   ⟹   XP_054199115
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0232,405,536 - 32,667,526 (+)NCBI
RefSeq Acc Id: XM_054343141   ⟹   XP_054199116
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0232,405,536 - 32,667,526 (+)NCBI
RefSeq Acc Id: XM_054343142   ⟹   XP_054199117
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0232,405,536 - 32,667,526 (+)NCBI
RefSeq Acc Id: XM_054343143   ⟹   XP_054199118
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0232,405,536 - 32,667,526 (+)NCBI
RefSeq Acc Id: XM_054343144   ⟹   XP_054199119
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0232,405,536 - 32,667,526 (+)NCBI
RefSeq Acc Id: XM_054343145   ⟹   XP_054199120
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0232,405,536 - 32,667,526 (+)NCBI
RefSeq Acc Id: XM_054343146   ⟹   XP_054199121
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0232,405,536 - 32,667,526 (+)NCBI
RefSeq Acc Id: XM_054343147   ⟹   XP_054199122
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0232,405,536 - 32,667,526 (+)NCBI
RefSeq Acc Id: XM_054343148   ⟹   XP_054199123
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0232,405,536 - 32,667,526 (+)NCBI
RefSeq Acc Id: XM_054343149   ⟹   XP_054199124
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0232,405,536 - 32,667,526 (+)NCBI
RefSeq Acc Id: XM_054343150   ⟹   XP_054199125
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0232,405,536 - 32,667,526 (+)NCBI
RefSeq Acc Id: XM_054343151   ⟹   XP_054199126
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0232,405,536 - 32,667,526 (+)NCBI
RefSeq Acc Id: XM_054343152   ⟹   XP_054199127
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0232,405,536 - 32,667,526 (+)NCBI
RefSeq Acc Id: XM_054343153   ⟹   XP_054199128
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0232,405,536 - 32,667,526 (+)NCBI
RefSeq Acc Id: XM_054343154   ⟹   XP_054199129
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0232,405,536 - 32,667,526 (+)NCBI
RefSeq Acc Id: XM_054343155   ⟹   XP_054199130
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0232,405,536 - 32,667,526 (+)NCBI
RefSeq Acc Id: XM_054343156   ⟹   XP_054199131
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0232,405,536 - 32,667,526 (+)NCBI
RefSeq Acc Id: XM_054343157   ⟹   XP_054199132
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0232,405,536 - 32,667,526 (+)NCBI
RefSeq Acc Id: XM_054343158   ⟹   XP_054199133
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0232,405,536 - 32,667,526 (+)NCBI
RefSeq Acc Id: XM_054343159   ⟹   XP_054199134
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0232,405,536 - 32,667,526 (+)NCBI
RefSeq Acc Id: XM_054343160   ⟹   XP_054199135
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0232,405,536 - 32,667,526 (+)NCBI
RefSeq Acc Id: XM_054343161   ⟹   XP_054199136
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0232,405,536 - 32,667,526 (+)NCBI
RefSeq Acc Id: XM_054343162   ⟹   XP_054199137
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0232,405,536 - 32,667,526 (+)NCBI
RefSeq Acc Id: XM_054343163   ⟹   XP_054199138
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0232,405,536 - 32,667,526 (+)NCBI
RefSeq Acc Id: XM_054343164   ⟹   XP_054199139
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0232,405,536 - 32,667,526 (+)NCBI
RefSeq Acc Id: XM_054343165   ⟹   XP_054199140
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0232,405,536 - 32,667,526 (+)NCBI
RefSeq Acc Id: XM_054343166   ⟹   XP_054199141
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0232,405,536 - 32,667,526 (+)NCBI
RefSeq Acc Id: XM_054343167   ⟹   XP_054199142
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0232,405,536 - 32,667,526 (+)NCBI
RefSeq Acc Id: XM_054343168   ⟹   XP_054199143
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0232,405,536 - 32,667,526 (+)NCBI
RefSeq Acc Id: XM_054343169   ⟹   XP_054199144
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0232,405,536 - 32,667,526 (+)NCBI
RefSeq Acc Id: XM_054343170   ⟹   XP_054199145
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0232,405,536 - 32,667,526 (+)NCBI
RefSeq Acc Id: XM_054343171   ⟹   XP_054199146
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0232,405,536 - 32,667,526 (+)NCBI
RefSeq Acc Id: XM_054343172   ⟹   XP_054199147
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0232,405,536 - 32,667,526 (+)NCBI
RefSeq Acc Id: XM_054343173   ⟹   XP_054199148
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0232,405,536 - 32,667,526 (+)NCBI
RefSeq Acc Id: XM_054343174   ⟹   XP_054199149
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0232,406,836 - 32,667,526 (+)NCBI
RefSeq Acc Id: XM_054343175   ⟹   XP_054199150
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0232,406,836 - 32,667,526 (+)NCBI
RefSeq Acc Id: XM_054343176   ⟹   XP_054199151
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0232,406,836 - 32,667,526 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001365054 (Get FASTA)   NCBI Sequence Viewer  
  NP_057336 (Get FASTA)   NCBI Sequence Viewer  
  XP_005264507 (Get FASTA)   NCBI Sequence Viewer  
  XP_005264508 (Get FASTA)   NCBI Sequence Viewer  
  XP_005264509 (Get FASTA)   NCBI Sequence Viewer  
  XP_005264510 (Get FASTA)   NCBI Sequence Viewer  
  XP_005264512 (Get FASTA)   NCBI Sequence Viewer  
  XP_006712117 (Get FASTA)   NCBI Sequence Viewer  
  XP_006712118 (Get FASTA)   NCBI Sequence Viewer  
  XP_006712119 (Get FASTA)   NCBI Sequence Viewer  
  XP_011531305 (Get FASTA)   NCBI Sequence Viewer  
  XP_016860045 (Get FASTA)   NCBI Sequence Viewer  
  XP_016860046 (Get FASTA)   NCBI Sequence Viewer  
  XP_016860047 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301114 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301115 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301116 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301117 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301118 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301119 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301120 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301121 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301122 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301123 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301124 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301125 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301126 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301127 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301128 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301129 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301130 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301131 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301132 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301133 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301134 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301135 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301136 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301137 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301138 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301139 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301140 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301141 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301142 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301143 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301144 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301145 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301146 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301147 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301148 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301149 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199104 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199105 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199106 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199107 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199108 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199109 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199110 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199111 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199112 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199113 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199114 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199115 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199116 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199117 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199118 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199119 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199120 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199121 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199122 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199123 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199124 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199125 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199126 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199127 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199128 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199129 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199130 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199131 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199132 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199133 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199134 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199135 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199136 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199137 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199138 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199139 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199140 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199141 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199142 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199143 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199144 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199145 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199146 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199147 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199148 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199149 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199150 (Get FASTA)   NCBI Sequence Viewer  
  XP_054199151 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAF75772 (Get FASTA)   NCBI Sequence Viewer  
  BAA86603 (Get FASTA)   NCBI Sequence Viewer  
  BAB14679 (Get FASTA)   NCBI Sequence Viewer  
  BAB14700 (Get FASTA)   NCBI Sequence Viewer  
  EAX00443 (Get FASTA)   NCBI Sequence Viewer  
  EAX00444 (Get FASTA)   NCBI Sequence Viewer  
  EAX00445 (Get FASTA)   NCBI Sequence Viewer  
  EAX00446 (Get FASTA)   NCBI Sequence Viewer  
  EAX00447 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000393590.2
  ENSP00000393596
  ENSP00000393596.2
  ENSP00000413090.1
  ENSP00000498175.1
  ENSP00000515025
  ENSP00000515025.1
  ENSP00000515026
  ENSP00000515026.1
GenBank Protein Q9NR09 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_057336   ⟸   NM_016252
- Peptide Label: isoform 1
- UniProtKB: Q9ULD1 (UniProtKB/Swiss-Prot),   Q9NR09 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005264508   ⟸   XM_005264451
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_005264507   ⟸   XM_005264450
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_005264509   ⟸   XM_005264452
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_005264510   ⟸   XM_005264453
- Peptide Label: isoform X12
- Sequence:
RefSeq Acc Id: XP_005264512   ⟸   XM_005264455
- Peptide Label: isoform X24
- UniProtKB: A0A8V8TQB4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006712118   ⟸   XM_006712055
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: XP_006712117   ⟸   XM_006712054
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_006712119   ⟸   XM_006712056
- Peptide Label: isoform X18
- Sequence:
RefSeq Acc Id: XP_011531305   ⟸   XM_011533003
- Peptide Label: isoform X46
- Sequence:
RefSeq Acc Id: XP_016860045   ⟸   XM_017004556
- Peptide Label: isoform X15
- Sequence:
RefSeq Acc Id: XP_016860046   ⟸   XM_017004557
- Peptide Label: isoform X20
- Sequence:
RefSeq Acc Id: XP_016860047   ⟸   XM_017004558
- Peptide Label: isoform X26
- UniProtKB: A0A8V8TR92 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001365054   ⟸   NM_001378125
- Peptide Label: isoform 2
RefSeq Acc Id: ENSP00000498175   ⟸   ENST00000648282
RefSeq Acc Id: ENSP00000413090   ⟸   ENST00000444173
RefSeq Acc Id: ENSP00000393590   ⟸   ENST00000431454
RefSeq Acc Id: ENSP00000393596   ⟸   ENST00000421745
RefSeq Acc Id: XP_047301123   ⟸   XM_047445167
- Peptide Label: isoform X17
RefSeq Acc Id: XP_047301116   ⟸   XM_047445160
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047301126   ⟸   XM_047445170
- Peptide Label: isoform X22
RefSeq Acc Id: XP_047301130   ⟸   XM_047445174
- Peptide Label: isoform X28
RefSeq Acc Id: XP_047301121   ⟸   XM_047445165
- Peptide Label: isoform X14
RefSeq Acc Id: XP_047301115   ⟸   XM_047445159
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047301114   ⟸   XM_047445158
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047301118   ⟸   XM_047445162
- Peptide Label: isoform X9
RefSeq Acc Id: XP_047301128   ⟸   XM_047445172
- Peptide Label: isoform X25
RefSeq Acc Id: XP_047301127   ⟸   XM_047445171
- Peptide Label: isoform X23
RefSeq Acc Id: XP_047301133   ⟸   XM_047445177
- Peptide Label: isoform X31
RefSeq Acc Id: XP_047301119   ⟸   XM_047445163
- Peptide Label: isoform X10
RefSeq Acc Id: XP_047301122   ⟸   XM_047445166
- Peptide Label: isoform X16
RefSeq Acc Id: XP_047301136   ⟸   XM_047445180
- Peptide Label: isoform X34
RefSeq Acc Id: XP_047301140   ⟸   XM_047445184
- Peptide Label: isoform X38
RefSeq Acc Id: XP_047301117   ⟸   XM_047445161
- Peptide Label: isoform X8
RefSeq Acc Id: XP_047301125   ⟸   XM_047445169
- Peptide Label: isoform X21
RefSeq Acc Id: XP_047301120   ⟸   XM_047445164
- Peptide Label: isoform X13
RefSeq Acc Id: XP_047301124   ⟸   XM_047445168
- Peptide Label: isoform X19
RefSeq Acc Id: XP_047301132   ⟸   XM_047445176
- Peptide Label: isoform X30
RefSeq Acc Id: XP_047301139   ⟸   XM_047445183
- Peptide Label: isoform X37
RefSeq Acc Id: XP_047301138   ⟸   XM_047445182
- Peptide Label: isoform X36
RefSeq Acc Id: XP_047301134   ⟸   XM_047445178
- Peptide Label: isoform X32
RefSeq Acc Id: XP_047301131   ⟸   XM_047445175
- Peptide Label: isoform X29
RefSeq Acc Id: XP_047301142   ⟸   XM_047445186
- Peptide Label: isoform X40
RefSeq Acc Id: XP_047301145   ⟸   XM_047445189
- Peptide Label: isoform X43
RefSeq Acc Id: XP_047301144   ⟸   XM_047445188
- Peptide Label: isoform X42
RefSeq Acc Id: XP_047301129   ⟸   XM_047445173
- Peptide Label: isoform X27
RefSeq Acc Id: XP_047301137   ⟸   XM_047445181
- Peptide Label: isoform X35
RefSeq Acc Id: XP_047301135   ⟸   XM_047445179
- Peptide Label: isoform X33
RefSeq Acc Id: XP_047301141   ⟸   XM_047445185
- Peptide Label: isoform X39
RefSeq Acc Id: XP_047301143   ⟸   XM_047445187
- Peptide Label: isoform X41
RefSeq Acc Id: XP_047301147   ⟸   XM_047445191
- Peptide Label: isoform X45
RefSeq Acc Id: XP_047301146   ⟸   XM_047445190
- Peptide Label: isoform X44
RefSeq Acc Id: XP_047301149   ⟸   XM_047445193
- Peptide Label: isoform X48
RefSeq Acc Id: XP_047301148   ⟸   XM_047445192
- Peptide Label: isoform X47
RefSeq Acc Id: ENSP00000515026   ⟸   ENST00000700519
RefSeq Acc Id: ENSP00000515025   ⟸   ENST00000700518
RefSeq Acc Id: XP_054199114   ⟸   XM_054343139
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054199106   ⟸   XM_054343131
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054199120   ⟸   XM_054343145
- Peptide Label: isoform X17
RefSeq Acc Id: XP_054199105   ⟸   XM_054343130
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054199118   ⟸   XM_054343143
- Peptide Label: isoform X15
RefSeq Acc Id: XP_054199110   ⟸   XM_054343135
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054199121   ⟸   XM_054343146
- Peptide Label: isoform X18
RefSeq Acc Id: XP_054199125   ⟸   XM_054343150
- Peptide Label: isoform X22
RefSeq Acc Id: XP_054199131   ⟸   XM_054343156
- Peptide Label: isoform X28
RefSeq Acc Id: XP_054199104   ⟸   XM_054343129
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054199117   ⟸   XM_054343142
- Peptide Label: isoform X14
RefSeq Acc Id: XP_054199108   ⟸   XM_054343133
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054199107   ⟸   XM_054343132
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054199112   ⟸   XM_054343137
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054199123   ⟸   XM_054343148
- Peptide Label: isoform X20
RefSeq Acc Id: XP_054199128   ⟸   XM_054343153
- Peptide Label: isoform X25
RefSeq Acc Id: XP_054199126   ⟸   XM_054343151
- Peptide Label: isoform X23
RefSeq Acc Id: XP_054199134   ⟸   XM_054343159
- Peptide Label: isoform X31
RefSeq Acc Id: XP_054199109   ⟸   XM_054343134
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054199115   ⟸   XM_054343140
- Peptide Label: isoform X12
RefSeq Acc Id: XP_054199113   ⟸   XM_054343138
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054199119   ⟸   XM_054343144
- Peptide Label: isoform X16
RefSeq Acc Id: XP_054199129   ⟸   XM_054343154
- Peptide Label: isoform X26
- UniProtKB: A0A8V8TR92 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054199137   ⟸   XM_054343162
- Peptide Label: isoform X34
RefSeq Acc Id: XP_054199141   ⟸   XM_054343166
- Peptide Label: isoform X38
RefSeq Acc Id: XP_054199111   ⟸   XM_054343136
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054199124   ⟸   XM_054343149
- Peptide Label: isoform X21
RefSeq Acc Id: XP_054199116   ⟸   XM_054343141
- Peptide Label: isoform X13
RefSeq Acc Id: XP_054199122   ⟸   XM_054343147
- Peptide Label: isoform X19
RefSeq Acc Id: XP_054199133   ⟸   XM_054343158
- Peptide Label: isoform X30
RefSeq Acc Id: XP_054199140   ⟸   XM_054343165
- Peptide Label: isoform X37
RefSeq Acc Id: XP_054199139   ⟸   XM_054343164
- Peptide Label: isoform X36
RefSeq Acc Id: XP_054199127   ⟸   XM_054343152
- Peptide Label: isoform X24
- UniProtKB: A0A8V8TQB4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054199135   ⟸   XM_054343160
- Peptide Label: isoform X32
RefSeq Acc Id: XP_054199132   ⟸   XM_054343157
- Peptide Label: isoform X29
RefSeq Acc Id: XP_054199143   ⟸   XM_054343168
- Peptide Label: isoform X40
RefSeq Acc Id: XP_054199146   ⟸   XM_054343171
- Peptide Label: isoform X43
RefSeq Acc Id: XP_054199145   ⟸   XM_054343170
- Peptide Label: isoform X42
RefSeq Acc Id: XP_054199130   ⟸   XM_054343155
- Peptide Label: isoform X27
RefSeq Acc Id: XP_054199138   ⟸   XM_054343163
- Peptide Label: isoform X35
RefSeq Acc Id: XP_054199136   ⟸   XM_054343161
- Peptide Label: isoform X33
RefSeq Acc Id: XP_054199142   ⟸   XM_054343167
- Peptide Label: isoform X39
RefSeq Acc Id: XP_054199144   ⟸   XM_054343169
- Peptide Label: isoform X41
RefSeq Acc Id: XP_054199148   ⟸   XM_054343173
- Peptide Label: isoform X45
RefSeq Acc Id: XP_054199147   ⟸   XM_054343172
- Peptide Label: isoform X44
RefSeq Acc Id: XP_054199149   ⟸   XM_054343174
- Peptide Label: isoform X46
RefSeq Acc Id: XP_054199151   ⟸   XM_054343176
- Peptide Label: isoform X48
RefSeq Acc Id: XP_054199150   ⟸   XM_054343175
- Peptide Label: isoform X47
Protein Domains
UBC core

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NR09-F1-model_v2 AlphaFold Q9NR09 1-1400 view protein structure
AF-Q9NR09-F2-model_v2 AlphaFold Q9NR09 201-1600 view protein structure
AF-Q9NR09-F3-model_v2 AlphaFold Q9NR09 401-1800 view protein structure
AF-Q9NR09-F4-model_v2 AlphaFold Q9NR09 601-2000 view protein structure
AF-Q9NR09-F5-model_v2 AlphaFold Q9NR09 801-2200 view protein structure
AF-Q9NR09-F6-model_v2 AlphaFold Q9NR09 1001-2400 view protein structure
AF-Q9NR09-F7-model_v2 AlphaFold Q9NR09 1201-2600 view protein structure
AF-Q9NR09-F8-model_v2 AlphaFold Q9NR09 1401-2800 view protein structure
AF-Q9NR09-F9-model_v2 AlphaFold Q9NR09 1601-3000 view protein structure
AF-Q9NR09-F10-model_v2 AlphaFold Q9NR09 1801-3200 view protein structure
AF-Q9NR09-F11-model_v2 AlphaFold Q9NR09 2001-3400 view protein structure
AF-Q9NR09-F12-model_v2 AlphaFold Q9NR09 2201-3600 view protein structure
AF-Q9NR09-F13-model_v2 AlphaFold Q9NR09 2401-3800 view protein structure
AF-Q9NR09-F14-model_v2 AlphaFold Q9NR09 2601-4000 view protein structure
AF-Q9NR09-F15-model_v2 AlphaFold Q9NR09 2801-4200 view protein structure
AF-Q9NR09-F16-model_v2 AlphaFold Q9NR09 3001-4400 view protein structure
AF-Q9NR09-F17-model_v2 AlphaFold Q9NR09 3201-4600 view protein structure
AF-Q9NR09-F18-model_v2 AlphaFold Q9NR09 3401-4800 view protein structure
AF-Q9NR09-F19-model_v2 AlphaFold Q9NR09 3601-4857 view protein structure

Promoters
RGD ID:6860064
Promoter ID:EPDNEW_H3197
Type:initiation region
Name:BIRC6_1
Description:baculoviral IAP repeat containing 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38232,357,123 - 32,357,183EPDNEW
RGD ID:6796865
Promoter ID:HG_KWN:32120
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000318769
Position:
Human AssemblyChrPosition (strand)Source
Build 36232,435,324 - 32,435,824 (+)MPROMDB
RGD ID:6796866
Promoter ID:HG_KWN:32125
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000325215
Position:
Human AssemblyChrPosition (strand)Source
Build 36232,522,191 - 32,522,691 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:13516 AgrOrtholog
COSMIC BIRC6 COSMIC
Ensembl Genes ENSG00000115760 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000421745 ENTREZGENE
  ENST00000421745.7 UniProtKB/Swiss-Prot
  ENST00000431454.2 UniProtKB/TrEMBL
  ENST00000444173.5 UniProtKB/TrEMBL
  ENST00000648282.1 UniProtKB/TrEMBL
  ENST00000700518 ENTREZGENE
  ENST00000700518.1 UniProtKB/TrEMBL
  ENST00000700519 ENTREZGENE
  ENST00000700519.1 UniProtKB/TrEMBL
Gene3D-CATH 3.10.110.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000115760 GTEx
HGNC ID HGNC:13516 ENTREZGENE
Human Proteome Map BIRC6 Human Proteome Map
InterPro BIR_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BIRC6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UBQ-conjugat_E2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UBQ-conjugating_enzyme/RWD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:57448 UniProtKB/Swiss-Prot
NCBI Gene 57448 ENTREZGENE
OMIM 605638 OMIM
PANTHER (E3-INDEPENDENT) E2 UBIQUITIN-CONJUGATING ENZYME UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BACULOVIRAL IAP REPEAT-CONTAINING PROTEIN 6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam BIR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BIRC6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UQ_con UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25363 PharmGKB
PROSITE BIR_REPEAT_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UBC_2 UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
SMART BIR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UBCc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Inhibitor of apoptosis (IAP) repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF54495 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A3B3IUB9_HUMAN UniProtKB/TrEMBL
  A0A8V8TQB4 ENTREZGENE, UniProtKB/TrEMBL
  A0A8V8TR92 ENTREZGENE, UniProtKB/TrEMBL
  BIRC6_HUMAN UniProtKB/Swiss-Prot
  H7C094_HUMAN UniProtKB/TrEMBL
  H7C3P0_HUMAN UniProtKB/TrEMBL
  Q9NR09 ENTREZGENE
  Q9ULD1 ENTREZGENE
UniProt Secondary Q9ULD1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-07-27 BIRC6  baculoviral IAP repeat containing 6  BIRC6  baculoviral IAP repeat-containing 6  Symbol and/or name change 5135510 APPROVED