MIA2 (MIA SH3 domain ER export factor 2) - Rat Genome Database

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Gene: MIA2 (MIA SH3 domain ER export factor 2) Homo sapiens
Analyze
Symbol: MIA2
Name: MIA SH3 domain ER export factor 2
RGD ID: 1351524
HGNC Page HGNC:18432
Description: Enables cargo receptor activity. Involved in several processes, including endoplasmic reticulum to Golgi vesicle-mediated transport; protein localization to endoplasmic reticulum exit site; and protein transport. Located in endoplasmic reticulum exit site.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: cTAGE family member 5; CTAGE family member 5, ER export factor; CTAGE family, member 5; CTAGE5; cutaneous T-cell lymphoma-associated antigen 5; MEA6; melanoma inhibitory activity 2; melanoma inhibitory activity protein 2; meningioma expressed antigen 6 (coiled-coil proline-rich); meningioma-expressed antigen 6/11; MGEA; MGEA11; MGEA6; MIA protein 2; protein cTAGE-5; TALI; TANGO1-like
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: AC013470.3   AC018717.1   AC079866.1   AC114878.2   AP000860.1   CTAGE10P   CTAGE11P   CTAGE12P   CTAGE3P   CTAGE7P   LOC100419516   LOC100419613   LOC100419617   LOC100419737  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381439,233,915 - 39,388,522 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1439,230,231 - 39,388,513 (+)EnsemblGRCh38hg38GRCh38
GRCh371439,703,119 - 39,857,726 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361438,804,227 - 38,890,148 (+)NCBINCBI36Build 36hg18NCBI36
Build 341438,806,100 - 38,890,333NCBI
Celera1419,599,121 - 19,684,807 (+)NCBICelera
Cytogenetic Map14q21.1NCBI
HuRef1419,848,252 - 19,934,286 (+)NCBIHuRef
CHM1_11439,733,093 - 39,818,981 (+)NCBICHM1_1
T2T-CHM13v2.01433,422,576 - 33,577,145 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (EXP)
(1->4)-beta-D-glucan  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
3,3',4,4'-tetrachlorobiphenyl  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
8-Br-cAMP  (EXP)
aflatoxin B1  (EXP)
aristolochic acid A  (EXP)
Aroclor 1254  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
butanal  (EXP)
caffeine  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
cholesterol  (ISO)
choline  (ISO)
chromium(6+)  (ISO)
clorgyline  (EXP)
cobalt dichloride  (EXP)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) sulfate  (EXP)
coumarin  (EXP)
cyclosporin A  (EXP)
dexamethasone  (EXP)
dicrotophos  (EXP)
epoxiconazole  (ISO)
fipronil  (ISO)
fluoranthene  (ISO)
flutamide  (ISO)
folic acid  (ISO)
gentamycin  (ISO)
glycidyl methacrylate  (EXP)
hydrogen peroxide  (EXP)
indometacin  (EXP)
L-methionine  (ISO)
lead diacetate  (ISO)
leflunomide  (EXP)
menadione  (EXP)
methamphetamine  (ISO)
methidathion  (ISO)
oxaliplatin  (ISO)
p-toluidine  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
pirinixic acid  (ISO)
quercetin  (EXP)
resveratrol  (EXP)
rotenone  (ISO)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
sodium fluoride  (ISO)
sulforaphane  (EXP)
sunitinib  (EXP)
tert-butyl hydroperoxide  (EXP)
thioacetamide  (ISO)
topotecan  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triptonide  (ISO)
valdecoxib  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8889548   PMID:9356211   PMID:11076863   PMID:11149944   PMID:11181995   PMID:11230166   PMID:11472066   PMID:11803467   PMID:12477932   PMID:12508121   PMID:12586826   PMID:12839582  
PMID:14702039   PMID:15174051   PMID:15489334   PMID:15489336   PMID:16344560   PMID:16381901   PMID:16959974   PMID:17081983   PMID:17207965   PMID:17474147   PMID:17881540   PMID:17974005  
PMID:18029348   PMID:19946888   PMID:20838928   PMID:21516116   PMID:21525241   PMID:21807889   PMID:21873635   PMID:21988832   PMID:22120627   PMID:22745667   PMID:23054591   PMID:23284306  
PMID:23511560   PMID:24275569   PMID:24722188   PMID:25202031   PMID:25416956   PMID:25657029   PMID:26186194   PMID:27138255   PMID:27170179   PMID:27413011   PMID:27551091   PMID:28380382  
PMID:28442536   PMID:28514442   PMID:28515276   PMID:29180619   PMID:29395067   PMID:29509190   PMID:29513218   PMID:29987050   PMID:31586073   PMID:31871319   PMID:32877691   PMID:32878247  
PMID:33961781   PMID:34079125   PMID:35044719   PMID:35271311   PMID:35384245   PMID:35696571   PMID:35914814   PMID:35944360   PMID:36215168   PMID:37499664   PMID:37536630   PMID:37931956  


Genomics

Comparative Map Data
MIA2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381439,233,915 - 39,388,522 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1439,230,231 - 39,388,513 (+)EnsemblGRCh38hg38GRCh38
GRCh371439,703,119 - 39,857,726 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361438,804,227 - 38,890,148 (+)NCBINCBI36Build 36hg18NCBI36
Build 341438,806,100 - 38,890,333NCBI
Celera1419,599,121 - 19,684,807 (+)NCBICelera
Cytogenetic Map14q21.1NCBI
HuRef1419,848,252 - 19,934,286 (+)NCBIHuRef
CHM1_11439,733,093 - 39,818,981 (+)NCBICHM1_1
T2T-CHM13v2.01433,422,576 - 33,577,145 (+)NCBIT2T-CHM13v2.0
Mia2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391259,142,368 - 59,237,006 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1259,142,585 - 59,238,369 (+)EnsemblGRCm39 Ensembl
GRCm381259,095,582 - 59,190,220 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1259,095,799 - 59,191,583 (+)EnsemblGRCm38mm10GRCm38
MGSCv371260,196,787 - 60,210,117 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361260,013,812 - 60,027,142 (+)NCBIMGSCv36mm8
Celera1260,256,085 - 60,270,002 (+)NCBICelera
Cytogenetic Map12C1NCBI
cM Map1226.0NCBI
Mia2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8682,522,398 - 82,620,136 (+)NCBIGRCr8
mRatBN7.2676,787,508 - 76,885,246 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl676,787,508 - 76,885,211 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx677,233,951 - 77,324,686 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0677,533,276 - 77,624,017 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0676,960,755 - 77,051,492 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0680,188,721 - 80,286,918 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl680,218,880 - 80,286,546 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0689,744,546 - 89,812,704 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera675,547,780 - 75,640,268 (+)NCBICelera
Cytogenetic Map6q23NCBI
MIA2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21540,569,851 - 40,687,372 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11439,786,365 - 39,903,886 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01420,006,513 - 20,123,814 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11438,361,636 - 38,477,841 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1438,361,828 - 38,513,998 (+)Ensemblpanpan1.1panPan2
MIA2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1817,390,738 - 17,482,421 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha817,201,939 - 17,293,589 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0817,513,281 - 17,604,910 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl817,513,274 - 17,604,905 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1817,200,618 - 17,292,213 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0817,272,349 - 17,363,932 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0817,558,909 - 17,650,605 (+)NCBIUU_Cfam_GSD_1.0
Mia2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864049,300,077 - 49,462,431 (+)NCBIHiC_Itri_2
SpeTri2.0NW_00493649412,805,990 - 12,911,754 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MIA2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.11169,777,581 - 169,868,308 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21188,512,962 - 188,579,797 (+)NCBISscrofa10.2Sscrofa10.2susScr3
MIA2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12415,997,817 - 16,127,881 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660535,113,193 - 5,229,943 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mia2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248138,650,615 - 8,776,264 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MIA2
49 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh37/hg19 14q21.1(chr14:39714987-39722682)x1 copy number loss not provided [RCV000750983] Chr14:39714987..39722682 [GRCh37]
Chr14:14q21.1		 benign
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 copy number gain not provided [RCV000738413] Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q21.1(chr14:39703308-39960246)x3 copy number gain not provided [RCV000762778] Chr14:39703308..39960246 [GRCh37]
Chr14:14q21.1		 likely benign
GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3 copy number gain not provided [RCV001006605] Chr14:20511672..44829030 [GRCh37]
Chr14:14q11.2-21.2		 pathogenic
NM_203354.2(CTAGE5):c.531+169C>T single nucleotide variant Lung cancer [RCV000098742] Chr14:39294240 [GRCh38]
Chr14:39763444 [GRCh37]
Chr14:14q21.1		 uncertain significance
NM_203354.2(CTAGE5):c.1574C>T (p.Pro525Leu) single nucleotide variant Malignant melanoma [RCV000070537] Chr14:39320994 [GRCh38]
Chr14:39790198 [GRCh37]
Chr14:38859949 [NCBI36]
Chr14:14q21.1		 not provided
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 copy number gain not provided [RCV000738412] Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33		 pathogenic
GRCh37/hg19 14q21.1(chr14:39444420-39903666)x1 copy number loss not provided [RCV001006621] Chr14:39444420..39903666 [GRCh37]
Chr14:14q21.1		 uncertain significance
GRCh37/hg19 14q21.1(chr14:39570335-39854035)x1 copy number loss not provided [RCV001006622] Chr14:39570335..39854035 [GRCh37]
Chr14:14q21.1		 uncertain significance
GRCh37/hg19 14q13.2-21.2(chr14:35934503-47120961)x1 copy number loss not provided [RCV000683624] Chr14:35934503..47120961 [GRCh37]
Chr14:14q13.2-21.2		 pathogenic
GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3 copy number gain not provided [RCV001249358] Chr14:20511672..42881888 [GRCh37]
Chr14:14q11.2-21.1		 not provided
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) copy number gain See cases [RCV000512041] Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 copy number gain See cases [RCV000446256] Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh38/hg38 14q13.1-21.1(chr14:33880412-42359485)x1 copy number loss See cases [RCV000142211] Chr14:33880412..42359485 [GRCh38]
Chr14:34349618..42828688 [GRCh37]
Chr14:33419369..41898438 [NCBI36]
Chr14:14q13.1-21.1		 pathogenic
GRCh38/hg38 14q12-21.2(chr14:30792271-44685131)x1 copy number loss See cases [RCV000143063] Chr14:30792271..44685131 [GRCh38]
Chr14:31261477..45154334 [GRCh37]
Chr14:30331228..44224084 [NCBI36]
Chr14:14q12-21.2		 pathogenic
GRCh38/hg38 14q21.1(chr14:38828029-40664503)x1 copy number loss See cases [RCV000143150] Chr14:38828029..40664503 [GRCh38]
Chr14:39297233..41133708 [GRCh37]
Chr14:38366984..40203458 [NCBI36]
Chr14:14q21.1		 uncertain significance
GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3 copy number gain See cases [RCV000143186] Chr14:20022693..44093672 [GRCh38]
Chr14:20490852..44562875 [GRCh37]
Chr14:19560692..43632625 [NCBI36]
Chr14:14q11.2-21.2		 pathogenic
GRCh38/hg38 14q12-21.2(chr14:30670314-44990595)x3 copy number gain See cases [RCV000052292] Chr14:30670314..44990595 [GRCh38]
Chr14:31139520..45459798 [GRCh37]
Chr14:30209271..44529548 [NCBI36]
Chr14:14q12-21.2		 pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3 copy number gain See cases [RCV000143748] Chr14:20043513..48642042 [GRCh38]
Chr14:20511672..49111245 [GRCh37]
Chr14:19581512..48180995 [NCBI36]
Chr14:14q11.2-21.3		 pathogenic
GRCh38/hg38 14q13.2-21.2(chr14:35068276-43994777)x1 copy number loss See cases [RCV000137841] Chr14:35068276..43994777 [GRCh38]
Chr14:35537482..44463980 [GRCh37]
Chr14:34607233..43533730 [NCBI36]
Chr14:14q13.2-21.2		 pathogenic
NM_001329214.4(MIA2):c.3180+2TA[4] microsatellite not specified [RCV000202718] Chr14:39314801..39314802 [GRCh38]
Chr14:39784005..39784006 [GRCh37]
Chr14:14q21.1		 benign
GRCh38/hg38 14q11.2-21.1(chr14:20150949-39746154)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053806]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053806]|See cases [RCV000053806] Chr14:20150949..39746154 [GRCh38]
Chr14:20619108..40215358 [GRCh37]
Chr14:19688948..39285109 [NCBI36]
Chr14:14q11.2-21.1		 pathogenic
GRCh38/hg38 14q21.1-22.3(chr14:39196172-56714461)x3 copy number gain See cases [RCV000140717] Chr14:39196172..56714461 [GRCh38]
Chr14:39665376..57181179 [GRCh37]
Chr14:38735127..56250932 [NCBI36]
Chr14:14q21.1-22.3		 likely pathogenic
GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1 copy number loss See cases [RCV000051485] Chr14:20196945..45284802 [GRCh38]
Chr14:20665104..45754005 [GRCh37]
Chr14:19734944..44823755 [NCBI36]
Chr14:14q11.2-21.2		 pathogenic
GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1 copy number loss See cases [RCV000051490] Chr14:23548960..41983402 [GRCh38]
Chr14:24018169..42452605 [GRCh37]
Chr14:23088009..41522355 [NCBI36]
Chr14:14q11.2-21.1		 pathogenic
GRCh38/hg38 14q13.3-21.1(chr14:36434568-41102476)x1 copy number loss See cases [RCV000051515] Chr14:36434568..41102476 [GRCh38]
Chr14:36903773..41571681 [GRCh37]
Chr14:35973524..40641431 [NCBI36]
Chr14:14q13.3-21.1		 pathogenic
GRCh38/hg38 14q21.1(chr14:38817817-40894390)x1 copy number loss See cases [RCV000051518] Chr14:38817817..40894390 [GRCh38]
Chr14:39287021..41363595 [GRCh37]
Chr14:38356772..40433345 [NCBI36]
Chr14:14q21.1		 pathogenic
NM_001329214.4(MIA2):c.4052C>T (p.Pro1351Leu) single nucleotide variant not specified [RCV004302672] Chr14:39348957 [GRCh38]
Chr14:39818161 [GRCh37]
Chr14:14q21.1		 uncertain significance
NM_001329214.4(MIA2):c.1918C>T (p.Pro640Ser) single nucleotide variant not specified [RCV004295946] Chr14:39276964 [GRCh38]
Chr14:39746168 [GRCh37]
Chr14:14q21.1		 uncertain significance
NM_001329214.4(MIA2):c.938G>T (p.Gly313Val) single nucleotide variant not specified [RCV004288274] Chr14:39247512 [GRCh38]
Chr14:39716716 [GRCh37]
Chr14:14q21.1		 uncertain significance
NM_001329214.4(MIA2):c.3754A>G (p.Asn1252Asp) single nucleotide variant not specified [RCV004320674] Chr14:39346002 [GRCh38]
Chr14:39815206 [GRCh37]
Chr14:14q21.1		 uncertain significance
NM_001329214.4(MIA2):c.1888-9445G>T single nucleotide variant not provided [RCV000960556] Chr14:39267489 [GRCh38]
Chr14:39736693 [GRCh37]
Chr14:14q21.1		 benign
NM_001329214.4(MIA2):c.3926G>A (p.Gly1309Asp) single nucleotide variant not specified [RCV004286582] Chr14:39348831 [GRCh38]
Chr14:39818035 [GRCh37]
Chr14:14q21.1		 uncertain significance
NM_001329214.4(MIA2):c.2401A>G (p.Thr801Ala) single nucleotide variant not provided [RCV000960590] Chr14:39294934 [GRCh38]
Chr14:39764138 [GRCh37]
Chr14:14q21.1		 likely benign
NM_001329214.4(MIA2):c.2572A>G (p.Lys858Glu) single nucleotide variant not provided [RCV000960591] Chr14:39299939 [GRCh38]
Chr14:39769143 [GRCh37]
Chr14:14q21.1		 benign
GRCh37/hg19 14q13.3-21.1(chr14:37486532-39796638)x1 copy number loss not provided [RCV002472888] Chr14:37486532..39796638 [GRCh37]
Chr14:14q13.3-21.1		 uncertain significance
GRCh37/hg19 14q11.2-22.2(chr14:23164384-54733411)x3 copy number gain See cases [RCV000447658] Chr14:23164384..54733411 [GRCh37]
Chr14:14q11.2-22.2		 pathogenic
GRCh37/hg19 14q13.1-21.2(chr14:33608925-44570367) copy number loss Poor motor coordination [RCV001352634] Chr14:33608925..44570367 [GRCh37]
Chr14:14q13.1-21.2		 pathogenic
GRCh37/hg19 14q13.2-21.1(chr14:35850213-40138562)x1 copy number loss See cases [RCV000447612] Chr14:35850213..40138562 [GRCh37]
Chr14:14q13.2-21.1		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 copy number gain not provided [RCV000738414] Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q13.3-21.1(chr14:36830396-42541277)x1 copy number loss not provided [RCV001006616] Chr14:36830396..42541277 [GRCh37]
Chr14:14q13.3-21.1		 pathogenic
GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203) copy number gain Seizure [RCV002280625] Chr14:20511672..47481203 [GRCh37]
Chr14:14q11.2-21.3		 pathogenic
GRCh37/hg19 14q13.2-21.1(chr14:35850213-40138562) copy number loss not specified [RCV002053094] Chr14:35850213..40138562 [GRCh37]
Chr14:14q13.2-21.1		 pathogenic
GRCh37/hg19 14q13.3-21.1(chr14:36862276-41597549) copy number loss not specified [RCV002053095] Chr14:36862276..41597549 [GRCh37]
Chr14:14q13.3-21.1		 pathogenic
NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del deletion Brain-lung-thyroid syndrome [RCV002221171] Chr14:36986276..36987308 [GRCh37]
Chr14:14q11.2-21.3		 pathogenic
NM_001329214.4(MIA2):c.3032A>G (p.Glu1011Gly) single nucleotide variant not specified [RCV004300960] Chr14:39313354 [GRCh38]
Chr14:39782558 [GRCh37]
Chr14:14q21.1		 uncertain significance
GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2 copy number gain See cases [RCV002286356] Chr14:37671058..106985955 [GRCh37]
Chr14:14q13.3-32.33		 pathogenic
NM_001329214.4(MIA2):c.403G>T (p.Gly135Cys) single nucleotide variant not specified [RCV004318850] Chr14:39246977 [GRCh38]
Chr14:39716181 [GRCh37]
Chr14:14q21.1		 uncertain significance
NM_001329214.4(MIA2):c.1033A>G (p.Ile345Val) single nucleotide variant not specified [RCV004086290] Chr14:39247607 [GRCh38]
Chr14:39716811 [GRCh37]
Chr14:14q21.1		 uncertain significance
NM_001329214.4(MIA2):c.937G>A (p.Gly313Arg) single nucleotide variant not specified [RCV004078704] Chr14:39247511 [GRCh38]
Chr14:39716715 [GRCh37]
Chr14:14q21.1		 uncertain significance
NM_001329214.4(MIA2):c.1380C>A (p.Phe460Leu) single nucleotide variant not specified [RCV004114602] Chr14:39247954 [GRCh38]
Chr14:39717158 [GRCh37]
Chr14:14q21.1		 uncertain significance
NM_001329214.4(MIA2):c.403G>C (p.Gly135Arg) single nucleotide variant not specified [RCV004211019] Chr14:39246977 [GRCh38]
Chr14:39716181 [GRCh37]
Chr14:14q21.1		 uncertain significance
NM_001329214.4(MIA2):c.261G>T (p.Glu87Asp) single nucleotide variant not specified [RCV004200889] Chr14:39240572 [GRCh38]
Chr14:39709776 [GRCh37]
Chr14:14q21.1		 likely benign
NM_001329214.4(MIA2):c.1867A>G (p.Ile623Val) single nucleotide variant not specified [RCV004216324] Chr14:39253151 [GRCh38]
Chr14:39722355 [GRCh37]
Chr14:14q21.1		 uncertain significance
NM_001329214.4(MIA2):c.1511A>G (p.Asn504Ser) single nucleotide variant not specified [RCV004129282] Chr14:39248085 [GRCh38]
Chr14:39717289 [GRCh37]
Chr14:14q21.1		 uncertain significance
NM_001329214.4(MIA2):c.1887+70T>C single nucleotide variant not specified [RCV004123381] Chr14:39253241 [GRCh38]
Chr14:39722445 [GRCh37]
Chr14:14q21.1		 uncertain significance
NM_001329214.4(MIA2):c.1148C>G (p.Ala383Gly) single nucleotide variant not specified [RCV004169060] Chr14:39247722 [GRCh38]
Chr14:39716926 [GRCh37]
Chr14:14q21.1		 likely benign
NM_001329214.4(MIA2):c.562G>A (p.Gly188Arg) single nucleotide variant not specified [RCV004159939] Chr14:39247136 [GRCh38]
Chr14:39716340 [GRCh37]
Chr14:14q21.1		 likely benign
NM_001329214.4(MIA2):c.1887+37C>T single nucleotide variant not specified [RCV004225867] Chr14:39253208 [GRCh38]
Chr14:39722412 [GRCh37]
Chr14:14q21.1		 uncertain significance
NM_001329214.4(MIA2):c.1231C>T (p.His411Tyr) single nucleotide variant not specified [RCV004075620] Chr14:39247805 [GRCh38]
Chr14:39717009 [GRCh37]
Chr14:14q21.1		 uncertain significance
NM_001329214.4(MIA2):c.2551A>C (p.Lys851Gln) single nucleotide variant not provided [RCV003393396] Chr14:39299918 [GRCh38]
Chr14:39769122 [GRCh37]
Chr14:14q21.1		 likely benign
NM_001329214.4(MIA2):c.3385C>G (p.Pro1129Ala) single nucleotide variant not provided [RCV003393399] Chr14:39320945 [GRCh38]
Chr14:39790149 [GRCh37]
Chr14:14q21.1		 likely benign
NM_001329214.4(MIA2):c.38C>G (p.Ala13Gly) single nucleotide variant not specified [RCV004279993] Chr14:39234152 [GRCh38]
Chr14:39703356 [GRCh37]
Chr14:14q21.1		 uncertain significance
NM_001329214.4(MIA2):c.531A>C (p.Gln177His) single nucleotide variant not specified [RCV004265436] Chr14:39247105 [GRCh38]
Chr14:39716309 [GRCh37]
Chr14:14q21.1		 uncertain significance
NM_001329214.4(MIA2):c.4049G>T (p.Gly1350Val) single nucleotide variant not specified [RCV004282619] Chr14:39348954 [GRCh38]
Chr14:39818158 [GRCh37]
Chr14:14q21.1		 uncertain significance
NM_001329214.4(MIA2):c.3958T>C (p.Phe1320Leu) single nucleotide variant not specified [RCV004260626] Chr14:39348863 [GRCh38]
Chr14:39818067 [GRCh37]
Chr14:14q21.1		 uncertain significance
NM_001329214.4(MIA2):c.227G>A (p.Arg76Lys) single nucleotide variant not specified [RCV004256747] Chr14:39237033 [GRCh38]
Chr14:39706237 [GRCh37]
Chr14:14q21.1		 uncertain significance
NM_001329214.4(MIA2):c.3986C>G (p.Pro1329Arg) single nucleotide variant not specified [RCV004259460] Chr14:39348891 [GRCh38]
Chr14:39818095 [GRCh37]
Chr14:14q21.1		 uncertain significance
NM_001329214.4(MIA2):c.1439C>T (p.Pro480Leu) single nucleotide variant not specified [RCV004319492] Chr14:39248013 [GRCh38]
Chr14:39717217 [GRCh37]
Chr14:14q21.1		 uncertain significance
NM_001329214.4(MIA2):c.2029C>T (p.Arg677Trp) single nucleotide variant not specified [RCV004343561] Chr14:39279346 [GRCh38]
Chr14:39748550 [GRCh37]
Chr14:14q21.1		 uncertain significance
NM_001329214.4(MIA2):c.722C>T (p.Ser241Leu) single nucleotide variant not specified [RCV004349467] Chr14:39247296 [GRCh38]
Chr14:39716500 [GRCh37]
Chr14:14q21.1		 uncertain significance
NM_001329214.4(MIA2):c.3626A>G (p.Gln1209Arg) single nucleotide variant not specified [RCV004352467] Chr14:39326993 [GRCh38]
Chr14:39796197 [GRCh37]
Chr14:14q21.1		 uncertain significance
NM_001329214.4(MIA2):c.642C>T (p.Val214=) single nucleotide variant not provided [RCV003393394] Chr14:39247216 [GRCh38]
Chr14:39716420 [GRCh37]
Chr14:14q21.1		 likely benign
NM_001329214.4(MIA2):c.3081A>G (p.Glu1027=) single nucleotide variant not provided [RCV003393398] Chr14:39313403 [GRCh38]
Chr14:39782607 [GRCh37]
Chr14:14q21.1		 likely benign
NM_001329214.4(MIA2):c.4127G>C (p.Gly1376Ala) single nucleotide variant not specified [RCV004339660] Chr14:39350152 [GRCh38]
Chr14:39819356 [GRCh37]
Chr14:14q21.1		 uncertain significance
NM_001329214.4(MIA2):c.1063T>G (p.Cys355Gly) single nucleotide variant not specified [RCV004340620] Chr14:39247637 [GRCh38]
Chr14:39716841 [GRCh37]
Chr14:14q21.1		 uncertain significance
NM_001329214.4(MIA2):c.4130T>A (p.Phe1377Tyr) single nucleotide variant not specified [RCV004352438] Chr14:39350155 [GRCh38]
Chr14:39819359 [GRCh37]
Chr14:14q21.1		 uncertain significance
NM_001329214.4(MIA2):c.1885A>T (p.Arg629Trp) single nucleotide variant not specified [RCV004348241] Chr14:39253169 [GRCh38]
Chr14:39722373 [GRCh37]
Chr14:14q21.1		 uncertain significance
GRCh37/hg19 14q21.1(chr14:39312661-40883686)x1 copy number loss not provided [RCV003483201] Chr14:39312661..40883686 [GRCh37]
Chr14:14q21.1		 uncertain significance
GRCh37/hg19 14q21.1(chr14:39678488-39757273)x1 copy number loss not provided [RCV003483202] Chr14:39678488..39757273 [GRCh37]
Chr14:14q21.1		 uncertain significance
GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3 copy number gain not provided [RCV003485022] Chr14:20511673..61826023 [GRCh37]
Chr14:14q11.2-23.1		 pathogenic
GRCh37/hg19 14q21.1(chr14:39316403-39743319)x3 copy number gain not provided [RCV003485030] Chr14:39316403..39743319 [GRCh37]
Chr14:14q21.1		 uncertain significance
NM_001329214.4(MIA2):c.646C>T (p.Pro216Ser) single nucleotide variant not provided [RCV003393395] Chr14:39247220 [GRCh38]
Chr14:39716424 [GRCh37]
Chr14:14q21.1		 likely benign
NM_001329214.4(MIA2):c.2661T>A (p.Ala887=) single nucleotide variant not provided [RCV003393397] Chr14:39302170 [GRCh38]
Chr14:39771374 [GRCh37]
Chr14:14q21.1		 likely benign
NM_001329214.4(MIA2):c.3180+10_3180+11insGTGTGTGTGTGT microsatellite not provided [RCV003668741] Chr14:39314808..39314809 [GRCh38]
Chr14:39784012..39784013 [GRCh37]
Chr14:14q21.1		 likely benign
NM_001329214.4(MIA2):c.3180+10_3180+11insGTGTGTGT microsatellite not provided [RCV003671793] Chr14:39314808..39314809 [GRCh38]
Chr14:39784012..39784013 [GRCh37]
Chr14:14q21.1		 likely benign
GRCh37/hg19 14q12-21.2(chr14:29190489-45325177)x1 copy number loss not specified [RCV003987053] Chr14:29190489..45325177 [GRCh37]
Chr14:14q12-21.2		 pathogenic
NM_001329214.4(MIA2):c.3180+12TG[14] microsatellite not provided [RCV003675587] Chr14:39314810..39314811 [GRCh38]
Chr14:39784014..39784015 [GRCh37]
Chr14:14q21.1		 likely benign
NM_001329214.4(MIA2):c.3180+11delinsGTGTG indel not provided [RCV003675597] Chr14:39314810 [GRCh38]
Chr14:39784014 [GRCh37]
Chr14:14q21.1		 likely benign
NM_001329214.4(MIA2):c.2742T>A (p.Asp914Glu) single nucleotide variant not specified [RCV004419432] Chr14:39303479 [GRCh38]
Chr14:39772683 [GRCh37]
Chr14:14q21.1		 uncertain significance
NM_001329214.4(MIA2):c.962G>A (p.Gly321Glu) single nucleotide variant not specified [RCV004419433] Chr14:39247536 [GRCh38]
Chr14:39716740 [GRCh37]
Chr14:14q21.1		 uncertain significance
NM_001329214.4(MIA2):c.2822G>T (p.Arg941Ile) single nucleotide variant not specified [RCV004419434] Chr14:39304325 [GRCh38]
Chr14:39773529 [GRCh37]
Chr14:14q21.1		 uncertain significance
NM_001329214.4(MIA2):c.1930C>T (p.Leu644Phe) single nucleotide variant not specified [RCV004417320] Chr14:39276976 [GRCh38]
Chr14:39746180 [GRCh37]
Chr14:14q21.1		 uncertain significance
NM_001329214.4(MIA2):c.1631C>G (p.Ser544Cys) single nucleotide variant not specified [RCV004417333] Chr14:39252811 [GRCh38]
Chr14:39722015 [GRCh37]
Chr14:14q21.1		 uncertain significance
NM_001329214.4(MIA2):c.332C>T (p.Thr111Met) single nucleotide variant not specified [RCV004417353] Chr14:39240643 [GRCh38]
Chr14:39709847 [GRCh37]
Chr14:14q21.1		 uncertain significance
NM_001329214.4(MIA2):c.2348C>G (p.Ser783Cys) single nucleotide variant not specified [RCV004417357] Chr14:39294028 [GRCh38]
Chr14:39763232 [GRCh37]
Chr14:14q21.1		 uncertain significance
NM_001329214.4(MIA2):c.2600A>C (p.Asp867Ala) single nucleotide variant not specified [RCV004417361] Chr14:39299967 [GRCh38]
Chr14:39769171 [GRCh37]
Chr14:14q21.1		 uncertain significance
NM_001329214.4(MIA2):c.2918A>G (p.Gln973Arg) single nucleotide variant not specified [RCV004417321] Chr14:39308488 [GRCh38]
Chr14:39777692 [GRCh37]
Chr14:14q21.1		 uncertain significance
NM_001329214.4(MIA2):c.1389T>A (p.Asn463Lys) single nucleotide variant not specified [RCV004417328] Chr14:39247963 [GRCh38]
Chr14:39717167 [GRCh37]
Chr14:14q21.1		 uncertain significance
NM_001329214.4(MIA2):c.3369G>C (p.Glu1123Asp) single nucleotide variant not specified [RCV004417331] Chr14:39320929 [GRCh38]
Chr14:39790133 [GRCh37]
Chr14:14q21.1		 uncertain significance
NM_001329214.4(MIA2):c.3572C>T (p.Thr1191Ile) single nucleotide variant not specified [RCV004417335] Chr14:39326939 [GRCh38]
Chr14:39796143 [GRCh37]
Chr14:14q21.1		 uncertain significance
NM_001329214.4(MIA2):c.3574G>A (p.Asp1192Asn) single nucleotide variant not specified [RCV004417336] Chr14:39326941 [GRCh38]
Chr14:39796145 [GRCh37]
Chr14:14q21.1		 uncertain significance
NM_001329214.4(MIA2):c.3677C>A (p.Ala1226Asp) single nucleotide variant not specified [RCV004417339] Chr14:39345925 [GRCh38]
Chr14:39815129 [GRCh37]
Chr14:14q21.1		 uncertain significance
NM_001329214.4(MIA2):c.3787A>G (p.Met1263Val) single nucleotide variant not specified [RCV004417341] Chr14:39347721 [GRCh38]
Chr14:39816925 [GRCh37]
Chr14:14q21.1		 likely benign
NM_001329214.4(MIA2):c.3983C>T (p.Pro1328Leu) single nucleotide variant not specified [RCV004417342] Chr14:39348888 [GRCh38]
Chr14:39818092 [GRCh37]
Chr14:14q21.1		 uncertain significance
NM_001329214.4(MIA2):c.3986C>A (p.Pro1329Gln) single nucleotide variant not specified [RCV004417344] Chr14:39348891 [GRCh38]
Chr14:39818095 [GRCh37]
Chr14:14q21.1		 uncertain significance
NM_001329214.4(MIA2):c.218C>A (p.Ala73Glu) single nucleotide variant not specified [RCV004417345] Chr14:39237024 [GRCh38]
Chr14:39706228 [GRCh37]
Chr14:14q21.1		 uncertain significance
NM_001329214.4(MIA2):c.4019G>C (p.Arg1340Pro) single nucleotide variant not specified [RCV004417346] Chr14:39348924 [GRCh38]
Chr14:39818128 [GRCh37]
Chr14:14q21.1		 uncertain significance
NM_001329214.4(MIA2):c.4132T>G (p.Phe1378Val) single nucleotide variant not specified [RCV004417348] Chr14:39350157 [GRCh38]
Chr14:39819361 [GRCh37]
Chr14:14q21.1		 uncertain significance
NM_001329214.4(MIA2):c.2132A>G (p.Tyr711Cys) single nucleotide variant not specified [RCV004417352] Chr14:39291020 [GRCh38]
Chr14:39760224 [GRCh37]
Chr14:14q21.1		 uncertain significance
NM_001329214.4(MIA2):c.2432G>A (p.Arg811Gln) single nucleotide variant not specified [RCV004417359] Chr14:39294965 [GRCh38]
Chr14:39764169 [GRCh37]
Chr14:14q21.1		 uncertain significance
NM_001329214.4(MIA2):c.2494C>G (p.Gln832Glu) single nucleotide variant not specified [RCV004417360] Chr14:39295027 [GRCh38]
Chr14:39764231 [GRCh37]
Chr14:14q21.1		 uncertain significance
NM_001329214.4(MIA2):c.2066T>G (p.Met689Arg) single nucleotide variant not specified [RCV004417350] Chr14:39279473 [GRCh38]
Chr14:39748677 [GRCh37]
Chr14:14q21.1		 uncertain significance
NM_001329214.4(MIA2):c.3339C>T (p.Leu1113=) single nucleotide variant not provided [RCV003992888] Chr14:39319263 [GRCh38]
Chr14:39788467 [GRCh37]
Chr14:14q21.1		 likely benign
NM_001329214.4(MIA2):c.1055C>T (p.Thr352Ile) single nucleotide variant not specified [RCV004417319] Chr14:39247629 [GRCh38]
Chr14:39716833 [GRCh37]
Chr14:14q21.1		 uncertain significance
NM_001329214.4(MIA2):c.3043C>T (p.Arg1015Trp) single nucleotide variant not specified [RCV004417324] Chr14:39313365 [GRCh38]
Chr14:39782569 [GRCh37]
Chr14:14q21.1		 uncertain significance
NM_001329214.4(MIA2):c.3256A>G (p.Arg1086Gly) single nucleotide variant not specified [RCV004417329] Chr14:39317983 [GRCh38]
Chr14:39787187 [GRCh37]
Chr14:14q21.1		 uncertain significance
NM_001329214.4(MIA2):c.2039T>G (p.Val680Gly) single nucleotide variant not specified [RCV004417343] Chr14:39279356 [GRCh38]
Chr14:39748560 [GRCh37]
Chr14:14q21.1		 uncertain significance
NM_001329214.4(MIA2):c.4091C>T (p.Pro1364Leu) single nucleotide variant not specified [RCV004417347] Chr14:39350116 [GRCh38]
Chr14:39819320 [GRCh37]
Chr14:14q21.1		 uncertain significance
NM_001329214.4(MIA2):c.2110T>A (p.Phe704Ile) single nucleotide variant not specified [RCV004417351] Chr14:39279517 [GRCh38]
Chr14:39748721 [GRCh37]
Chr14:14q21.1		 uncertain significance
NM_001329214.4(MIA2):c.2195C>G (p.Ala732Gly) single nucleotide variant not specified [RCV004417354] Chr14:39291083 [GRCh38]
Chr14:39760287 [GRCh37]
Chr14:14q21.1		 uncertain significance
NM_001329214.4(MIA2):c.2942A>G (p.Asn981Ser) single nucleotide variant not specified [RCV004417322] Chr14:39308512 [GRCh38]
Chr14:39777716 [GRCh37]
Chr14:14q21.1		 likely benign
NM_001329214.4(MIA2):c.2945A>C (p.Glu982Ala) single nucleotide variant not specified [RCV004417323] Chr14:39308515 [GRCh38]
Chr14:39777719 [GRCh37]
Chr14:14q21.1		 uncertain significance
NM_001329214.4(MIA2):c.3131A>C (p.Lys1044Thr) single nucleotide variant not specified [RCV004417325] Chr14:39314750 [GRCh38]
Chr14:39783954 [GRCh37]
Chr14:14q21.1		 uncertain significance
NM_001329214.4(MIA2):c.3172C>A (p.Gln1058Lys) single nucleotide variant not specified [RCV004417326] Chr14:39314791 [GRCh38]
Chr14:39783995 [GRCh37]
Chr14:14q21.1		 uncertain significance
NM_001329214.4(MIA2):c.1385A>G (p.Tyr462Cys) single nucleotide variant not specified [RCV004417327] Chr14:39247959 [GRCh38]
Chr14:39717163 [GRCh37]
Chr14:14q21.1		 uncertain significance
NM_001329214.4(MIA2):c.3308T>G (p.Phe1103Cys) single nucleotide variant not specified [RCV004417330] Chr14:39319232 [GRCh38]
Chr14:39788436 [GRCh37]
Chr14:14q21.1		 uncertain significance
NM_001329214.4(MIA2):c.3454C>T (p.Pro1152Ser) single nucleotide variant not specified [RCV004417332] Chr14:39321014 [GRCh38]
Chr14:39790218 [GRCh37]
Chr14:14q21.1		 uncertain significance
NM_001329214.4(MIA2):c.3482G>C (p.Gly1161Ala) single nucleotide variant not specified [RCV004417334] Chr14:39321042 [GRCh38]
Chr14:39790246 [GRCh37]
Chr14:14q21.1		 uncertain significance
NM_001329214.4(MIA2):c.3622G>A (p.Asp1208Asn) single nucleotide variant not specified [RCV004417337] Chr14:39326989 [GRCh38]
Chr14:39796193 [GRCh37]
Chr14:14q21.1		 uncertain significance
NM_001329214.4(MIA2):c.4207A>G (p.Thr1403Ala) single nucleotide variant not specified [RCV004417349] Chr14:39350232 [GRCh38]
Chr14:39819436 [GRCh37]
Chr14:14q21.1		 uncertain significance
NM_001329214.4(MIA2):c.2324C>T (p.Ala775Val) single nucleotide variant not specified [RCV004417356] Chr14:39294004 [GRCh38]
Chr14:39763208 [GRCh37]
Chr14:14q21.1		 likely benign
NM_001329214.4(MIA2):c.2408A>G (p.Lys803Arg) single nucleotide variant not specified [RCV004417358] Chr14:39294941 [GRCh38]
Chr14:39764145 [GRCh37]
Chr14:14q21.1		 likely benign
NM_001329214.4(MIA2):c.3650C>T (p.Pro1217Leu) single nucleotide variant not specified [RCV004417338] Chr14:39327017 [GRCh38]
Chr14:39796221 [GRCh37]
Chr14:14q21.1		 uncertain significance
NM_001329214.4(MIA2):c.3712A>G (p.Asn1238Asp) single nucleotide variant not specified [RCV004417340] Chr14:39345960 [GRCh38]
Chr14:39815164 [GRCh37]
Chr14:14q21.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1948
Count of miRNA genes:596
Interacting mature miRNAs:660
Transcripts:ENST00000280083, ENST00000341502, ENST00000341749, ENST00000348007, ENST00000396158, ENST00000396165, ENST00000553352, ENST00000553383, ENST00000554392, ENST00000555143, ENST00000555716, ENST00000556148, ENST00000556593, ENST00000556990, ENST00000557038, ENST00000557148
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
RH80731  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371439,818,428 - 39,818,647UniSTSGRCh37
Build 361438,888,179 - 38,888,398RGDNCBI36
Celera1419,682,838 - 19,683,057RGD
Cytogenetic Map14q13.3UniSTS
HuRef1419,932,317 - 19,932,536UniSTS
G27651  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371439,819,454 - 39,819,578UniSTSGRCh37
GRCh377143,883,001 - 143,883,125UniSTSGRCh37
Build 367143,513,934 - 143,514,058RGDNCBI36
Celera7138,516,317 - 138,516,441RGD
Celera1419,683,864 - 19,683,988UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map13q22.2UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map14q13.3UniSTS
HuRef1419,933,343 - 19,933,467UniSTS
HuRef7138,082,563 - 138,082,687UniSTS
CRA_TCAGchr7v27143,221,259 - 143,221,383UniSTS
G36136  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371439,739,173 - 39,739,330UniSTSGRCh37
Build 361438,808,924 - 38,809,081RGDNCBI36
Celera1419,603,818 - 19,603,975RGD
Cytogenetic Map14q13.3UniSTS
HuRef1419,852,959 - 19,853,116UniSTS
STS-T59353  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371439,768,077 - 39,768,252UniSTSGRCh37
GRCh3775,539,479 - 5,539,681UniSTSGRCh37
Build 3675,506,005 - 5,506,207RGDNCBI36
Celera1419,632,488 - 19,632,663RGD
Celera1560,860,939 - 60,862,573UniSTS
Cytogenetic Map14q13.3UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map15q24UniSTS
HuRef1419,881,986 - 19,882,161UniSTS
HuRef1735,493,763 - 35,493,956UniSTS
CRA_TCAGchr7v275,585,833 - 5,586,035UniSTS
GeneMap99-GB4 RH Map1493.99UniSTS
NCBI RH Map14350.7UniSTS
RH93939  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371439,818,114 - 39,819,392UniSTSGRCh37
Celera1419,682,524 - 19,683,802UniSTS
Cytogenetic Map14q13.3UniSTS
HuRef1419,932,003 - 19,933,281UniSTS


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 802 1085 1389 407 891 246 1293 303 591 93 888 1031 161 293 990
Low 1629 1899 308 193 1046 195 3047 1887 3126 289 529 570 13 1 911 1798 6 2
Below cutoff 6 7 26 21 14 21 16 6 17 36 43 12

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_030349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001247988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001247989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001247990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001329214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_054024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_203354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_203355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_203356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011536778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011536785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017021314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017021315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017021316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017021317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017021318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017021319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017021323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017021324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017021327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017021330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002957554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002957555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA731729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB209528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF338233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF338234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF390175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI521895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL132639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL157791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW451965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC029513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC039017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC051363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC064355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC130537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC130563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM929588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ424957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX367676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX495701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX640994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD102996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD512382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CV809109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA072098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KX388743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U73682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U94780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000280082   ⟹   ENSP00000280082
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1439,233,916 - 39,253,639 (+)Ensembl
RefSeq Acc Id: ENST00000280083   ⟹   ENSP00000280083
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1439,267,146 - 39,351,395 (+)Ensembl
RefSeq Acc Id: ENST00000341502   ⟹   ENSP00000339286
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1439,267,246 - 39,388,513 (+)Ensembl
RefSeq Acc Id: ENST00000341749   ⟹   ENSP00000343897
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1439,265,292 - 39,350,694 (+)Ensembl
RefSeq Acc Id: ENST00000348007   ⟹   ENSP00000343912
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1439,267,414 - 39,350,694 (+)Ensembl
RefSeq Acc Id: ENST00000396158   ⟹   ENSP00000379462
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1439,267,124 - 39,351,193 (+)Ensembl
RefSeq Acc Id: ENST00000396165   ⟹   ENSP00000379468
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1439,265,968 - 39,350,423 (+)Ensembl
RefSeq Acc Id: ENST00000553352   ⟹   ENSP00000450449
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1439,276,226 - 39,350,645 (+)Ensembl
RefSeq Acc Id: ENST00000553383
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1439,347,545 - 39,350,645 (+)Ensembl
RefSeq Acc Id: ENST00000553728   ⟹   ENSP00000452252
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1439,233,902 - 39,350,423 (+)Ensembl
RefSeq Acc Id: ENST00000554392   ⟹   ENSP00000451164
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1439,265,284 - 39,293,311 (+)Ensembl
RefSeq Acc Id: ENST00000555143
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1439,233,910 - 39,237,270 (+)Ensembl
RefSeq Acc Id: ENST00000555716   ⟹   ENSP00000452395
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1439,265,291 - 39,294,072 (+)Ensembl
RefSeq Acc Id: ENST00000556148   ⟹   ENSP00000452562
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1439,267,411 - 39,350,421 (+)Ensembl
RefSeq Acc Id: ENST00000556593
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1439,313,401 - 39,315,302 (+)Ensembl
RefSeq Acc Id: ENST00000556990
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1439,267,086 - 39,294,053 (+)Ensembl
RefSeq Acc Id: ENST00000557038   ⟹   ENSP00000450869
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1439,265,309 - 39,350,690 (+)Ensembl
RefSeq Acc Id: ENST00000557148   ⟹   ENSP00000451883
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1439,230,231 - 39,240,588 (+)Ensembl
RefSeq Acc Id: ENST00000640607   ⟹   ENSP00000491014
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1439,233,915 - 39,350,694 (+)Ensembl
RefSeq Acc Id: NM_001247988   ⟹   NP_001234917
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381439,266,298 - 39,351,193 (+)NCBI
GRCh371439,734,476 - 39,820,397 (+)NCBI
HuRef1419,848,252 - 19,934,286 (+)NCBI
CHM1_11439,734,119 - 39,818,981 (+)NCBI
T2T-CHM13v2.01433,454,961 - 33,539,814 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001247989   ⟹   NP_001234918
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381439,267,385 - 39,351,404 (+)NCBI
GRCh371439,734,476 - 39,820,397 (+)NCBI
HuRef1419,848,252 - 19,934,286 (+)NCBI
CHM1_11439,734,945 - 39,818,981 (+)NCBI
T2T-CHM13v2.01433,456,048 - 33,540,025 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001247990   ⟹   NP_001234919
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381439,267,385 - 39,351,404 (+)NCBI
GRCh371439,734,476 - 39,820,397 (+)NCBI
HuRef1419,848,252 - 19,934,286 (+)NCBI
CHM1_11439,734,945 - 39,818,981 (+)NCBI
T2T-CHM13v2.01433,456,048 - 33,540,025 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001329214   ⟹   NP_001316143
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381439,233,915 - 39,350,694 (+)NCBI
T2T-CHM13v2.01433,422,576 - 33,539,315 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354137   ⟹   NP_001341066
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381439,266,922 - 39,351,404 (+)NCBI
T2T-CHM13v2.01433,455,585 - 33,540,025 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354138   ⟹   NP_001341067
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381439,267,124 - 39,351,193 (+)NCBI
T2T-CHM13v2.01433,455,787 - 33,539,814 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354139   ⟹   NP_001341068
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381439,266,922 - 39,351,404 (+)NCBI
T2T-CHM13v2.01433,455,585 - 33,540,025 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354140   ⟹   NP_001341069
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381439,265,291 - 39,351,404 (+)NCBI
T2T-CHM13v2.01433,453,954 - 33,540,025 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354141   ⟹   NP_001341070
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381439,267,385 - 39,351,404 (+)NCBI
T2T-CHM13v2.01433,456,048 - 33,540,025 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354142   ⟹   NP_001341071
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381439,266,298 - 39,351,193 (+)NCBI
T2T-CHM13v2.01433,454,961 - 33,539,814 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354143   ⟹   NP_001341072
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381439,267,124 - 39,351,193 (+)NCBI
T2T-CHM13v2.01433,455,787 - 33,539,814 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354144   ⟹   NP_001341073
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381439,267,385 - 39,351,404 (+)NCBI
T2T-CHM13v2.01433,456,048 - 33,540,025 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354145   ⟹   NP_001341074
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381439,265,291 - 39,388,522 (+)NCBI
T2T-CHM13v2.01433,453,954 - 33,577,145 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354146   ⟹   NP_001341075
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381439,265,291 - 39,351,404 (+)NCBI
T2T-CHM13v2.01433,453,954 - 33,540,025 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354147   ⟹   NP_001341076
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381439,266,298 - 39,351,193 (+)NCBI
T2T-CHM13v2.01433,454,961 - 33,539,814 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354148   ⟹   NP_001341077
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381439,266,298 - 39,388,513 (+)NCBI
T2T-CHM13v2.01433,454,961 - 33,577,136 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354149   ⟹   NP_001341078
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381439,266,298 - 39,351,193 (+)NCBI
T2T-CHM13v2.01433,454,961 - 33,539,814 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354150   ⟹   NP_001341079
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381439,266,672 - 39,351,404 (+)NCBI
T2T-CHM13v2.01433,455,335 - 33,540,025 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354151   ⟹   NP_001341080
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381439,267,385 - 39,351,404 (+)NCBI
T2T-CHM13v2.01433,456,048 - 33,540,025 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354152   ⟹   NP_001341081
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381439,267,385 - 39,351,193 (+)NCBI
T2T-CHM13v2.01433,456,048 - 33,539,814 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354153   ⟹   NP_001341082
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381439,267,385 - 39,351,404 (+)NCBI
T2T-CHM13v2.01433,456,048 - 33,540,025 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354154   ⟹   NP_001341083
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381439,267,385 - 39,388,522 (+)NCBI
T2T-CHM13v2.01433,456,048 - 33,577,145 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354155   ⟹   NP_001341084
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381439,267,385 - 39,388,522 (+)NCBI
T2T-CHM13v2.01433,456,048 - 33,577,145 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354156   ⟹   NP_001341085
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381439,267,385 - 39,351,404 (+)NCBI
T2T-CHM13v2.01433,456,048 - 33,540,025 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354157   ⟹   NP_001341086
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381439,267,385 - 39,351,404 (+)NCBI
T2T-CHM13v2.01433,456,048 - 33,540,025 (+)NCBI
Sequence:
RefSeq Acc Id: NM_005930   ⟹   NP_005921
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381439,267,385 - 39,351,404 (+)NCBI
GRCh371439,734,476 - 39,820,397 (+)RGD
Build 361438,806,079 - 38,890,148 (+)NCBI Archive
Celera1419,599,121 - 19,684,807 (+)RGD
HuRef1419,848,252 - 19,934,286 (+)RGD
CHM1_11439,734,945 - 39,818,981 (+)NCBI
T2T-CHM13v2.01433,456,048 - 33,540,025 (+)NCBI
Sequence:
RefSeq Acc Id: NM_054024   ⟹   NP_473365
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381439,233,915 - 39,253,639 (+)NCBI
CHM1_11439,701,740 - 39,721,192 (+)NCBI
T2T-CHM13v2.01433,422,576 - 33,442,302 (+)NCBI
Sequence:
RefSeq Acc Id: NM_203354   ⟹   NP_976229
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381439,265,291 - 39,351,404 (+)NCBI
GRCh371439,734,476 - 39,820,397 (+)RGD
Build 361438,804,227 - 38,890,148 (+)NCBI Archive
Celera1419,599,121 - 19,684,807 (+)RGD
HuRef1419,848,252 - 19,934,286 (+)RGD
CHM1_11439,733,093 - 39,818,981 (+)NCBI
T2T-CHM13v2.01433,453,954 - 33,540,025 (+)NCBI
Sequence:
RefSeq Acc Id: NM_203355   ⟹   NP_976230
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381439,267,385 - 39,351,404 (+)NCBI
GRCh371439,734,476 - 39,820,397 (+)RGD
Build 361438,806,079 - 38,890,148 (+)NCBI Archive
Celera1419,599,121 - 19,684,807 (+)RGD
HuRef1419,848,252 - 19,934,286 (+)RGD
CHM1_11439,734,945 - 39,818,981 (+)NCBI
T2T-CHM13v2.01433,456,048 - 33,540,025 (+)NCBI
Sequence:
RefSeq Acc Id: NM_203356   ⟹   NP_976231
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381439,266,298 - 39,351,193 (+)NCBI
GRCh371439,734,476 - 39,820,397 (+)RGD
Build 361438,805,253 - 38,890,148 (+)NCBI Archive
Celera1419,599,121 - 19,684,807 (+)RGD
HuRef1419,848,252 - 19,934,286 (+)RGD
CHM1_11439,734,119 - 39,818,981 (+)NCBI
T2T-CHM13v2.01433,454,961 - 33,539,814 (+)NCBI
Sequence:
RefSeq Acc Id: NR_148721
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381439,266,298 - 39,351,193 (+)NCBI
T2T-CHM13v2.01433,454,961 - 33,539,814 (+)NCBI
Sequence:
RefSeq Acc Id: NR_148722
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381439,267,385 - 39,351,404 (+)NCBI
T2T-CHM13v2.01433,456,048 - 33,540,025 (+)NCBI
Sequence:
RefSeq Acc Id: NR_148723
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381439,267,385 - 39,351,404 (+)NCBI
T2T-CHM13v2.01433,456,048 - 33,540,025 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011536778   ⟹   XP_011535080
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381439,265,291 - 39,351,404 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017021314   ⟹   XP_016876803
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381439,267,385 - 39,351,404 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017021315   ⟹   XP_016876804
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381439,266,672 - 39,351,404 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017021316   ⟹   XP_016876805
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381439,265,291 - 39,351,404 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017021317   ⟹   XP_016876806
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381439,266,298 - 39,351,404 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017021318   ⟹   XP_016876807
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381439,266,922 - 39,351,404 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017021319   ⟹   XP_016876808
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381439,267,124 - 39,351,404 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017021323   ⟹   XP_016876812
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381439,267,385 - 39,351,404 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017021324   ⟹   XP_016876813
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381439,265,291 - 39,351,404 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017021330   ⟹   XP_016876819
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381439,266,672 - 39,351,404 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024449592   ⟹   XP_024305360
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381439,233,915 - 39,351,404 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024449593   ⟹   XP_024305361
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381439,233,915 - 39,351,404 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024449594   ⟹   XP_024305362
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381439,233,915 - 39,351,404 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024449595   ⟹   XP_024305363
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381439,233,915 - 39,351,404 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024449596   ⟹   XP_024305364
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381439,233,915 - 39,351,404 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024449597   ⟹   XP_024305365
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381439,233,915 - 39,325,409 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024449598   ⟹   XP_024305366
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381439,266,298 - 39,351,404 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047431398   ⟹   XP_047287354
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381439,233,915 - 39,351,404 (+)NCBI
RefSeq Acc Id: XM_047431399   ⟹   XP_047287355
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381439,233,915 - 39,351,404 (+)NCBI
RefSeq Acc Id: XM_047431401   ⟹   XP_047287357
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381439,233,915 - 39,325,409 (+)NCBI
RefSeq Acc Id: XM_047431402   ⟹   XP_047287358
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381439,233,915 - 39,303,524 (+)NCBI
RefSeq Acc Id: XM_047431403   ⟹   XP_047287359
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381439,265,291 - 39,351,404 (+)NCBI
RefSeq Acc Id: XM_047431405   ⟹   XP_047287361
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381439,267,124 - 39,351,404 (+)NCBI
RefSeq Acc Id: XM_047431406   ⟹   XP_047287362
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381439,267,124 - 39,351,404 (+)NCBI
RefSeq Acc Id: XM_047431407   ⟹   XP_047287363
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381439,267,385 - 39,351,404 (+)NCBI
RefSeq Acc Id: XM_047431408   ⟹   XP_047287364
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381439,266,672 - 39,351,404 (+)NCBI
RefSeq Acc Id: XM_047431409   ⟹   XP_047287365
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381439,265,291 - 39,351,404 (+)NCBI
RefSeq Acc Id: XM_047431410   ⟹   XP_047287366
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381439,267,124 - 39,351,404 (+)NCBI
RefSeq Acc Id: XM_047431411   ⟹   XP_047287367
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381439,267,124 - 39,351,404 (+)NCBI
RefSeq Acc Id: XM_047431412   ⟹   XP_047287368
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381439,267,385 - 39,325,402 (+)NCBI
RefSeq Acc Id: XM_054376085   ⟹   XP_054232060
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01433,422,576 - 33,540,025 (+)NCBI
RefSeq Acc Id: XM_054376086   ⟹   XP_054232061
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01433,422,576 - 33,540,025 (+)NCBI
RefSeq Acc Id: XM_054376087   ⟹   XP_054232062
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01433,422,576 - 33,540,025 (+)NCBI
RefSeq Acc Id: XM_054376088   ⟹   XP_054232063
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01433,422,576 - 33,540,025 (+)NCBI
RefSeq Acc Id: XM_054376089   ⟹   XP_054232064
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01433,422,576 - 33,540,025 (+)NCBI
RefSeq Acc Id: XM_054376090   ⟹   XP_054232065
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01433,422,576 - 33,540,025 (+)NCBI
RefSeq Acc Id: XM_054376091   ⟹   XP_054232066
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01433,422,576 - 33,540,025 (+)NCBI
RefSeq Acc Id: XM_054376092   ⟹   XP_054232067
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01433,422,576 - 33,514,039 (+)NCBI
RefSeq Acc Id: XM_054376093   ⟹   XP_054232068
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01433,422,576 - 33,514,039 (+)NCBI
RefSeq Acc Id: XM_054376094   ⟹   XP_054232069
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01433,422,576 - 33,492,202 (+)NCBI
RefSeq Acc Id: XM_054376095   ⟹   XP_054232070
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01433,456,048 - 33,540,025 (+)NCBI
RefSeq Acc Id: XM_054376096   ⟹   XP_054232071
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01433,455,335 - 33,540,025 (+)NCBI
RefSeq Acc Id: XM_054376097   ⟹   XP_054232072
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01433,453,954 - 33,540,025 (+)NCBI
RefSeq Acc Id: XM_054376098   ⟹   XP_054232073
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01433,453,954 - 33,540,025 (+)NCBI
RefSeq Acc Id: XM_054376099   ⟹   XP_054232074
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01433,453,954 - 33,540,025 (+)NCBI
RefSeq Acc Id: XM_054376100   ⟹   XP_054232075
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01433,454,961 - 33,540,025 (+)NCBI
RefSeq Acc Id: XM_054376101   ⟹   XP_054232076
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01433,455,585 - 33,540,025 (+)NCBI
RefSeq Acc Id: XM_054376102   ⟹   XP_054232077
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01433,455,787 - 33,540,025 (+)NCBI
RefSeq Acc Id: XM_054376103   ⟹   XP_054232078
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01433,455,787 - 33,540,025 (+)NCBI
RefSeq Acc Id: XM_054376104   ⟹   XP_054232079
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01433,455,787 - 33,540,025 (+)NCBI
RefSeq Acc Id: XM_054376105   ⟹   XP_054232080
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01433,456,048 - 33,540,025 (+)NCBI
RefSeq Acc Id: XM_054376106   ⟹   XP_054232081
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01433,455,335 - 33,540,025 (+)NCBI
RefSeq Acc Id: XM_054376107   ⟹   XP_054232082
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01433,453,954 - 33,540,025 (+)NCBI
RefSeq Acc Id: XM_054376108   ⟹   XP_054232083
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01433,453,954 - 33,540,025 (+)NCBI
RefSeq Acc Id: XM_054376109   ⟹   XP_054232084
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01433,456,048 - 33,540,025 (+)NCBI
RefSeq Acc Id: XM_054376110   ⟹   XP_054232085
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01433,454,961 - 33,540,025 (+)NCBI
RefSeq Acc Id: XM_054376111   ⟹   XP_054232086
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01433,455,787 - 33,540,025 (+)NCBI
RefSeq Acc Id: XM_054376112   ⟹   XP_054232087
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01433,455,787 - 33,540,025 (+)NCBI
RefSeq Acc Id: XM_054376113   ⟹   XP_054232088
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01433,455,394 - 33,540,025 (+)NCBI
RefSeq Acc Id: XM_054376114   ⟹   XP_054232089
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01433,456,048 - 33,514,030 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001234917 (Get FASTA)   NCBI Sequence Viewer  
  NP_001234918 (Get FASTA)   NCBI Sequence Viewer  
  NP_001234919 (Get FASTA)   NCBI Sequence Viewer  
  NP_001316143 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341066 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341067 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341068 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341069 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341070 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341071 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341072 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341073 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341074 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341075 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341076 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341077 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341078 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341079 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341080 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341081 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341082 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341083 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341084 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341085 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341086 (Get FASTA)   NCBI Sequence Viewer  
  NP_005921 (Get FASTA)   NCBI Sequence Viewer  
  NP_473365 (Get FASTA)   NCBI Sequence Viewer  
  NP_976229 (Get FASTA)   NCBI Sequence Viewer  
  NP_976230 (Get FASTA)   NCBI Sequence Viewer  
  NP_976231 (Get FASTA)   NCBI Sequence Viewer  
  XP_011535080 (Get FASTA)   NCBI Sequence Viewer  
  XP_016876803 (Get FASTA)   NCBI Sequence Viewer  
  XP_016876804 (Get FASTA)   NCBI Sequence Viewer  
  XP_016876805 (Get FASTA)   NCBI Sequence Viewer  
  XP_016876806 (Get FASTA)   NCBI Sequence Viewer  
  XP_016876807 (Get FASTA)   NCBI Sequence Viewer  
  XP_016876808 (Get FASTA)   NCBI Sequence Viewer  
  XP_016876812 (Get FASTA)   NCBI Sequence Viewer  
  XP_016876813 (Get FASTA)   NCBI Sequence Viewer  
  XP_016876819 (Get FASTA)   NCBI Sequence Viewer  
  XP_024305360 (Get FASTA)   NCBI Sequence Viewer  
  XP_024305361 (Get FASTA)   NCBI Sequence Viewer  
  XP_024305362 (Get FASTA)   NCBI Sequence Viewer  
  XP_024305363 (Get FASTA)   NCBI Sequence Viewer  
  XP_024305364 (Get FASTA)   NCBI Sequence Viewer  
  XP_024305365 (Get FASTA)   NCBI Sequence Viewer  
  XP_024305366 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287354 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287355 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287357 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287358 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287359 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287361 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287362 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287363 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287364 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287365 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287366 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287367 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287368 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232060 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232061 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232062 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232063 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232064 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232065 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232066 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232067 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232068 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232069 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232070 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232071 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232072 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232073 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232074 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232075 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232076 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232077 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232078 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232079 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232080 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232081 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232082 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232083 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232084 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232085 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232086 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232087 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232088 (Get FASTA)   NCBI Sequence Viewer  
  XP_054232089 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB86589 (Get FASTA)   NCBI Sequence Viewer  
  AAB86593 (Get FASTA)   NCBI Sequence Viewer  
  AAH29513 (Get FASTA)   NCBI Sequence Viewer  
  AAH35981 (Get FASTA)   NCBI Sequence Viewer  
  AAH39017 (Get FASTA)   NCBI Sequence Viewer  
  AAH51363 (Get FASTA)   NCBI Sequence Viewer  
  AAH64355 (Get FASTA)   NCBI Sequence Viewer  
  AAI30538 (Get FASTA)   NCBI Sequence Viewer  
  AAI30564 (Get FASTA)   NCBI Sequence Viewer  
  AAL26990 (Get FASTA)   NCBI Sequence Viewer  
  AAN77610 (Get FASTA)   NCBI Sequence Viewer  
  AAN77611 (Get FASTA)   NCBI Sequence Viewer  
  ANN89694 (Get FASTA)   NCBI Sequence Viewer  
  BAB15339 (Get FASTA)   NCBI Sequence Viewer  
  BAD92765 (Get FASTA)   NCBI Sequence Viewer  
  BAG36770 (Get FASTA)   NCBI Sequence Viewer  
  BAG52318 (Get FASTA)   NCBI Sequence Viewer  
  BAG61038 (Get FASTA)   NCBI Sequence Viewer  
  CAE45997 (Get FASTA)   NCBI Sequence Viewer  
  EAW65804 (Get FASTA)   NCBI Sequence Viewer  
  EAW65805 (Get FASTA)   NCBI Sequence Viewer  
  EAW65806 (Get FASTA)   NCBI Sequence Viewer  
  EAW65807 (Get FASTA)   NCBI Sequence Viewer  
  EAW65808 (Get FASTA)   NCBI Sequence Viewer  
  EAW65809 (Get FASTA)   NCBI Sequence Viewer  
  EAW65810 (Get FASTA)   NCBI Sequence Viewer  
  EAW65811 (Get FASTA)   NCBI Sequence Viewer  
  EAW65812 (Get FASTA)   NCBI Sequence Viewer  
  EAW65813 (Get FASTA)   NCBI Sequence Viewer  
  EAW65814 (Get FASTA)   NCBI Sequence Viewer  
  EAW65815 (Get FASTA)   NCBI Sequence Viewer  
  EAW65816 (Get FASTA)   NCBI Sequence Viewer  
  EAW65818 (Get FASTA)   NCBI Sequence Viewer  
  EAW65819 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000280082
  ENSP00000280082.3
  ENSP00000280083
  ENSP00000280083.3
  ENSP00000339286
  ENSP00000339286.5
  ENSP00000343897
  ENSP00000343897.3
  ENSP00000343912
  ENSP00000343912.3
  ENSP00000379462
  ENSP00000379462.2
  ENSP00000379468
  ENSP00000379468.4
  ENSP00000450449
  ENSP00000450449.1
  ENSP00000450869
  ENSP00000450869.1
  ENSP00000451164.1
  ENSP00000451883.1
  ENSP00000452252.1
  ENSP00000452395.1
  ENSP00000452562
  ENSP00000452562.1
  ENSP00000491014
  ENSP00000491014.1
GenBank Protein Q96PC5 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_976229   ⟸   NM_203354
- Peptide Label: isoform 2
- UniProtKB: Q59FD2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_976231   ⟸   NM_203356
- Peptide Label: isoform 4
- UniProtKB: Q59FD2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_976230   ⟸   NM_203355
- Peptide Label: isoform 3
- UniProtKB: Q59FD2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_005921   ⟸   NM_005930
- Peptide Label: isoform 1
- UniProtKB: Q59FD2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001234917   ⟸   NM_001247988
- Peptide Label: isoform 5
- UniProtKB: Q59FD2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001234918   ⟸   NM_001247989
- Peptide Label: isoform 6
- UniProtKB: Q59FD2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001234919   ⟸   NM_001247990
- Peptide Label: isoform 7
- UniProtKB: Q59FD2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011535080   ⟸   XM_011536778
- Peptide Label: isoform X14
- UniProtKB: Q59FD2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016876805   ⟸   XM_017021316
- Peptide Label: isoform X13
- UniProtKB: Q59FD2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016876813   ⟸   XM_017021324
- Peptide Label: isoform X22
- UniProtKB: Q59FD2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016876806   ⟸   XM_017021317
- Peptide Label: isoform X16
- UniProtKB: Q59FD2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016876804   ⟸   XM_017021315
- Peptide Label: isoform X12
- UniProtKB: Q59FD2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016876819   ⟸   XM_017021330
- Peptide Label: isoform X16
- UniProtKB: Q59FD2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016876807   ⟸   XM_017021318
- Peptide Label: isoform X16
- UniProtKB: Q59FD2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016876803   ⟸   XM_017021314
- Peptide Label: isoform X11
- UniProtKB: Q59FD2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016876808   ⟸   XM_017021319
- Peptide Label: isoform X16
- UniProtKB: Q59FD2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016876812   ⟸   XM_017021323
- Peptide Label: isoform X22
- UniProtKB: Q59FD2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_473365   ⟸   NM_054024
- Peptide Label: isoform 9 precursor
- UniProtKB: Q96PC5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024305360   ⟸   XM_024449592
- Peptide Label: isoform X1
- UniProtKB: G3V599 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024305363   ⟸   XM_024449595
- Peptide Label: isoform X4
- UniProtKB: G3V599 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024305362   ⟸   XM_024449594
- Peptide Label: isoform X3
- UniProtKB: G3V599 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024305361   ⟸   XM_024449593
- Peptide Label: isoform X2
- UniProtKB: G3V599 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024305364   ⟸   XM_024449596
- Peptide Label: isoform X6
- UniProtKB: G3V599 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024305365   ⟸   XM_024449597
- Peptide Label: isoform X8
- UniProtKB: G3V599 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001316143   ⟸   NM_001329214
- Peptide Label: isoform 8 precursor
- UniProtKB: Q8IX93 (UniProtKB/Swiss-Prot),   Q8IX92 (UniProtKB/Swiss-Prot),   Q86TF6 (UniProtKB/Swiss-Prot),   Q6P2R8 (UniProtKB/Swiss-Prot),   Q6MZN2 (UniProtKB/Swiss-Prot),   O15320 (UniProtKB/Swiss-Prot),   O00169 (UniProtKB/Swiss-Prot),   G3XAC5 (UniProtKB/Swiss-Prot),   D3DSA6 (UniProtKB/Swiss-Prot),   B4DQS6 (UniProtKB/Swiss-Prot),   B3KRA6 (UniProtKB/Swiss-Prot),   A1L4H0 (UniProtKB/Swiss-Prot),   Q9H6C1 (UniProtKB/Swiss-Prot),   Q96PC5 (UniProtKB/Swiss-Prot),   A0A193H6U5 (UniProtKB/TrEMBL),   G3V599 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341074   ⟸   NM_001354145
- Peptide Label: isoform 12
- Sequence:
RefSeq Acc Id: NP_001341075   ⟸   NM_001354146
- Peptide Label: isoform 13
- UniProtKB: Q59FD2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341069   ⟸   NM_001354140
- Peptide Label: isoform 10
- UniProtKB: Q59FD2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024305366   ⟸   XM_024449598
- Peptide Label: isoform X22
- UniProtKB: Q59FD2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341077   ⟸   NM_001354148
- Peptide Label: isoform 15
- UniProtKB: Q59FD2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341076   ⟸   NM_001354147
- Peptide Label: isoform 14
- UniProtKB: Q59FD2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341078   ⟸   NM_001354149
- Peptide Label: isoform 16
- UniProtKB: Q59FD2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341071   ⟸   NM_001354142
- Peptide Label: isoform 11
- UniProtKB: Q59FD2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341079   ⟸   NM_001354150
- Peptide Label: isoform 17
- UniProtKB: Q59FD2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341066   ⟸   NM_001354137
- Peptide Label: isoform 4
- UniProtKB: Q59FD2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341068   ⟸   NM_001354139
- Peptide Label: isoform 5
- UniProtKB: Q59FD2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341083   ⟸   NM_001354154
- Peptide Label: isoform 21
- UniProtKB: Q59FD2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341084   ⟸   NM_001354155
- Peptide Label: isoform 22
- UniProtKB: Q59FD2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341080   ⟸   NM_001354151
- Peptide Label: isoform 18
- UniProtKB: Q59FD2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341081   ⟸   NM_001354152
- Peptide Label: isoform 19
- UniProtKB: Q59FD2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341086   ⟸   NM_001354157
- Peptide Label: isoform 24
- UniProtKB: Q59FD2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341082   ⟸   NM_001354153
- Peptide Label: isoform 20
- UniProtKB: Q59FD2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341070   ⟸   NM_001354141
- Peptide Label: isoform 10
- UniProtKB: Q59FD2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341073   ⟸   NM_001354144
- Peptide Label: isoform 11
- UniProtKB: Q59FD2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341085   ⟸   NM_001354156
- Peptide Label: isoform 23
- UniProtKB: Q59FD2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341067   ⟸   NM_001354138
- Peptide Label: isoform 4
- UniProtKB: Q59FD2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341072   ⟸   NM_001354143
- Peptide Label: isoform 11
- UniProtKB: Q59FD2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000452395   ⟸   ENST00000555716
RefSeq Acc Id: ENSP00000452562   ⟸   ENST00000556148
RefSeq Acc Id: ENSP00000451883   ⟸   ENST00000557148
RefSeq Acc Id: ENSP00000450869   ⟸   ENST00000557038
RefSeq Acc Id: ENSP00000280083   ⟸   ENST00000280083
RefSeq Acc Id: ENSP00000280082   ⟸   ENST00000280082
RefSeq Acc Id: ENSP00000343912   ⟸   ENST00000348007
RefSeq Acc Id: ENSP00000491014   ⟸   ENST00000640607
RefSeq Acc Id: ENSP00000343897   ⟸   ENST00000341749
RefSeq Acc Id: ENSP00000339286   ⟸   ENST00000341502
RefSeq Acc Id: ENSP00000450449   ⟸   ENST00000553352
RefSeq Acc Id: ENSP00000379462   ⟸   ENST00000396158
RefSeq Acc Id: ENSP00000379468   ⟸   ENST00000396165
RefSeq Acc Id: ENSP00000452252   ⟸   ENST00000553728
RefSeq Acc Id: ENSP00000451164   ⟸   ENST00000554392
RefSeq Acc Id: XP_047287354   ⟸   XM_047431398
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047287355   ⟸   XM_047431399
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047287357   ⟸   XM_047431401
- Peptide Label: isoform X9
RefSeq Acc Id: XP_047287358   ⟸   XM_047431402
- Peptide Label: isoform X10
RefSeq Acc Id: XP_047287359   ⟸   XM_047431403
- Peptide Label: isoform X15
RefSeq Acc Id: XP_047287365   ⟸   XM_047431409
- Peptide Label: isoform X21
RefSeq Acc Id: XP_047287364   ⟸   XM_047431408
- Peptide Label: isoform X20
RefSeq Acc Id: XP_047287362   ⟸   XM_047431406
- Peptide Label: isoform X18
RefSeq Acc Id: XP_047287361   ⟸   XM_047431405
- Peptide Label: isoform X17
RefSeq Acc Id: XP_047287367   ⟸   XM_047431411
- Peptide Label: isoform X23
RefSeq Acc Id: XP_047287366   ⟸   XM_047431410
- Peptide Label: isoform X22
RefSeq Acc Id: XP_047287363   ⟸   XM_047431407
- Peptide Label: isoform X19
RefSeq Acc Id: XP_047287368   ⟸   XM_047431412
- Peptide Label: isoform X24
RefSeq Acc Id: XP_054232060   ⟸   XM_054376085
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054232063   ⟸   XM_054376088
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054232062   ⟸   XM_054376087
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054232064   ⟸   XM_054376089
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054232061   ⟸   XM_054376086
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054232065   ⟸   XM_054376090
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054232066   ⟸   XM_054376091
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054232067   ⟸   XM_054376092
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054232068   ⟸   XM_054376093
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054232069   ⟸   XM_054376094
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054232072   ⟸   XM_054376097
- Peptide Label: isoform X13
RefSeq Acc Id: XP_054232074   ⟸   XM_054376099
- Peptide Label: isoform X15
RefSeq Acc Id: XP_054232082   ⟸   XM_054376107
- Peptide Label: isoform X21
RefSeq Acc Id: XP_054232073   ⟸   XM_054376098
- Peptide Label: isoform X14
RefSeq Acc Id: XP_054232083   ⟸   XM_054376108
- Peptide Label: isoform X22
RefSeq Acc Id: XP_054232075   ⟸   XM_054376100
- Peptide Label: isoform X16
RefSeq Acc Id: XP_054232085   ⟸   XM_054376110
- Peptide Label: isoform X22
RefSeq Acc Id: XP_054232071   ⟸   XM_054376096
- Peptide Label: isoform X12
RefSeq Acc Id: XP_054232081   ⟸   XM_054376106
- Peptide Label: isoform X20
RefSeq Acc Id: XP_054232088   ⟸   XM_054376113
- Peptide Label: isoform X16
RefSeq Acc Id: XP_054232076   ⟸   XM_054376101
- Peptide Label: isoform X16
RefSeq Acc Id: XP_054232077   ⟸   XM_054376102
- Peptide Label: isoform X16
RefSeq Acc Id: XP_054232079   ⟸   XM_054376104
- Peptide Label: isoform X18
RefSeq Acc Id: XP_054232078   ⟸   XM_054376103
- Peptide Label: isoform X17
RefSeq Acc Id: XP_054232087   ⟸   XM_054376112
- Peptide Label: isoform X23
RefSeq Acc Id: XP_054232086   ⟸   XM_054376111
- Peptide Label: isoform X22
RefSeq Acc Id: XP_054232070   ⟸   XM_054376095
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054232080   ⟸   XM_054376105
- Peptide Label: isoform X19
RefSeq Acc Id: XP_054232084   ⟸   XM_054376109
- Peptide Label: isoform X22
RefSeq Acc Id: XP_054232089   ⟸   XM_054376114
- Peptide Label: isoform X24
Protein Domains
SH3

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96PC5-F1-model_v2 AlphaFold Q96PC5 1-1412 view protein structure

Promoters
RGD ID:6791394
Promoter ID:HG_KWN:19261
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:ENST00000382245,   ENST00000396158,   NM_203355,   OTTHUMT00000276771,   OTTHUMT00000276773,   UC001WVB.2,   UC001WVC.2,   UC001WVE.1,   UC001WVF.2,   UC010AMZ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361438,804,386 - 38,806,217 (+)MPROMDB
RGD ID:7227473
Promoter ID:EPDNEW_H19482
Type:initiation region
Name:MIA2_4
Description:melanoma inhibitory activity 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19483  EPDNEW_H19484  EPDNEW_H19485  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381439,233,921 - 39,233,981EPDNEW
RGD ID:7227475
Promoter ID:EPDNEW_H19483
Type:initiation region
Name:MIA2_2
Description:melanoma inhibitory activity 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19482  EPDNEW_H19484  EPDNEW_H19485  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381439,265,308 - 39,265,368EPDNEW
RGD ID:7227477
Promoter ID:EPDNEW_H19484
Type:initiation region
Name:MIA2_3
Description:melanoma inhibitory activity 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19482  EPDNEW_H19483  EPDNEW_H19485  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381439,267,133 - 39,267,193EPDNEW
RGD ID:7227479
Promoter ID:EPDNEW_H19485
Type:initiation region
Name:MIA2_1
Description:melanoma inhibitory activity 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19482  EPDNEW_H19483  EPDNEW_H19484  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381439,267,389 - 39,267,449EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18432 AgrOrtholog
COSMIC MIA2 COSMIC
Ensembl Genes ENSG00000150527 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000280082 ENTREZGENE
  ENST00000280082.4 UniProtKB/Swiss-Prot
  ENST00000280083 ENTREZGENE
  ENST00000280083.7 UniProtKB/Swiss-Prot
  ENST00000341502 ENTREZGENE
  ENST00000341502.9 UniProtKB/Swiss-Prot
  ENST00000341749 ENTREZGENE
  ENST00000341749.7 UniProtKB/Swiss-Prot
  ENST00000348007 ENTREZGENE
  ENST00000348007.7 UniProtKB/Swiss-Prot
  ENST00000396158 ENTREZGENE
  ENST00000396158.6 UniProtKB/Swiss-Prot
  ENST00000396165 ENTREZGENE
  ENST00000396165.8 UniProtKB/Swiss-Prot
  ENST00000553352 ENTREZGENE
  ENST00000553352.1 UniProtKB/Swiss-Prot
  ENST00000553728.1 UniProtKB/TrEMBL
  ENST00000554392.5 UniProtKB/TrEMBL
  ENST00000555716.5 UniProtKB/TrEMBL
  ENST00000556148 ENTREZGENE
  ENST00000556148.5 UniProtKB/Swiss-Prot
  ENST00000557038 ENTREZGENE
  ENST00000557038.5 UniProtKB/Swiss-Prot
  ENST00000557148.5 UniProtKB/TrEMBL
  ENST00000640607 ENTREZGENE
  ENST00000640607.2 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.5.340 UniProtKB/TrEMBL
  SH3 Domains UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000150527 GTEx
HGNC ID HGNC:18432 ENTREZGENE
Human Proteome Map MIA2 Human Proteome Map
InterPro MIA2_SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4253 UniProtKB/Swiss-Prot
NCBI Gene 4253 ENTREZGENE
OMIM 602132 OMIM
PANTHER MELANOMA INHIBITORY ACTIVITY PROTEIN 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MELANOMA INHIBITORY ACTIVITY-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam SH3_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134870998 PharmGKB
PROSITE SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50044 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A193H6U5 ENTREZGENE
  A1L4H0 ENTREZGENE
  B3KRA6 ENTREZGENE
  B4DQS6 ENTREZGENE
  D3DSA6 ENTREZGENE
  G3V3C4_HUMAN UniProtKB/TrEMBL
  G3V4M1_HUMAN UniProtKB/TrEMBL
  G3V599 ENTREZGENE, UniProtKB/TrEMBL
  G3V5K6_HUMAN UniProtKB/TrEMBL
  G3XAC5 ENTREZGENE
  MIA2_HUMAN UniProtKB/Swiss-Prot
  O00169 ENTREZGENE
  O15320 ENTREZGENE
  Q4G155_HUMAN UniProtKB/TrEMBL
  Q59FD2 ENTREZGENE, UniProtKB/TrEMBL
  Q6MZN2 ENTREZGENE
  Q6P2R8 ENTREZGENE
  Q6PIE7_HUMAN UniProtKB/TrEMBL
  Q86TF6 ENTREZGENE
  Q8IX92 ENTREZGENE
  Q8IX93 ENTREZGENE
  Q96PC5 ENTREZGENE
  Q9H6C1 ENTREZGENE
UniProt Secondary A0A193H6U5 UniProtKB/Swiss-Prot
  A1L4H0 UniProtKB/Swiss-Prot
  B3KRA6 UniProtKB/Swiss-Prot
  B4DQS6 UniProtKB/Swiss-Prot
  D3DSA6 UniProtKB/Swiss-Prot
  G3XAC5 UniProtKB/Swiss-Prot
  O00169 UniProtKB/Swiss-Prot
  O15320 UniProtKB/Swiss-Prot
  Q6MZN2 UniProtKB/Swiss-Prot
  Q6P2R8 UniProtKB/Swiss-Prot
  Q86TF6 UniProtKB/Swiss-Prot
  Q8IX92 UniProtKB/Swiss-Prot
  Q8IX93 UniProtKB/Swiss-Prot
  Q9H6C1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-05-22 MIA2  MIA SH3 domain ER export factor 2  MIA2  melanoma inhibitory activity 2  Symbol and/or name change 5135510 APPROVED
2016-11-22 MIA2  melanoma inhibitory activity 2  CTAGE5  CTAGE family member 5, ER export factor  Symbol and/or name change 5135510 APPROVED
2016-11-22 CTAGE5  CTAGE family member 5, ER export factor  MIA2  melanoma inhibitory activity 2  Data merged from RGD:1319985 737654 PROVISIONAL
2016-06-28 CTAGE5  CTAGE family member 5, ER export factor  CTAGE5  CTAGE family member 5  Symbol and/or name change 5135510 APPROVED
2015-11-24 CTAGE5  CTAGE family member 5  CTAGE5  CTAGE family, member 5  Symbol and/or name change 5135510 APPROVED