SNTG2 (syntrophin gamma 2) - Rat Genome Database

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Gene: SNTG2 (syntrophin gamma 2) Homo sapiens
Analyze
Symbol: SNTG2
Name: syntrophin gamma 2
RGD ID: 1350202
HGNC Page HGNC:13741
Description: Enables PDZ domain binding activity and neuroligin family protein binding activity. Predicted to be involved in central nervous system development. Located in nucleoplasm and plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: G2SYN; gamma-2-syntrophin; gamma2-syntrophin; MGC133174; SYN5; syntrophin 5; syntrophin, gamma 2; syntrophin-5
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382950,849 - 1,367,613 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2950,849 - 1,367,613 (+)EnsemblGRCh38hg38GRCh38
GRCh372946,535 - 1,371,385 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362936,555 - 1,253,924 (+)NCBINCBI36Build 36hg18NCBI36
Build 3421,291,271 - 1,350,389NCBI
Celera21,012,573 - 1,421,170 (+)NCBICelera
Cytogenetic Map2p25.3NCBI
HuRef2947,238 - 1,264,560 (+)NCBIHuRef
HuRef21,304,887 - 1,362,945 (+)NCBIHuRef
CHM1_12944,386 - 1,363,779 (+)NCBICHM1_1
T2T-CHM13v2.02950,782 - 1,369,232 (+)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
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
High myopia  (IAGP)
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:10747910   PMID:11329013   PMID:12429735   PMID:12477932   PMID:17292328   PMID:21873635   PMID:22721673   PMID:23061379   PMID:23782696   PMID:25008318   PMID:25416956   PMID:26053890  
PMID:27404360   PMID:28514442   PMID:28611215   PMID:30021884   PMID:30726710   PMID:32296183   PMID:32602654   PMID:33961781  


Genomics

Comparative Map Data
SNTG2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382950,849 - 1,367,613 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2950,849 - 1,367,613 (+)EnsemblGRCh38hg38GRCh38
GRCh372946,535 - 1,371,385 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362936,555 - 1,253,924 (+)NCBINCBI36Build 36hg18NCBI36
Build 3421,291,271 - 1,350,389NCBI
Celera21,012,573 - 1,421,170 (+)NCBICelera
Cytogenetic Map2p25.3NCBI
HuRef2947,238 - 1,264,560 (+)NCBIHuRef
HuRef21,304,887 - 1,362,945 (+)NCBIHuRef
CHM1_12944,386 - 1,363,779 (+)NCBICHM1_1
T2T-CHM13v2.02950,782 - 1,369,232 (+)NCBIT2T-CHM13v2.0
Sntg2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391230,224,481 - 30,423,424 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1230,224,481 - 30,423,374 (-)EnsemblGRCm39 Ensembl
GRCm381230,174,482 - 30,373,392 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1230,174,482 - 30,373,375 (-)EnsemblGRCm38mm10GRCm38
MGSCv371230,859,422 - 31,058,240 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361230,761,046 - 30,959,380 (-)NCBIMGSCv36mm8
Celera1231,631,444 - 31,829,368 (-)NCBICelera
Cytogenetic Map12A2NCBI
cM Map1213.0NCBI
Sntg2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8652,529,481 - 52,730,972 (-)NCBIGRCr8
mRatBN7.2646,801,893 - 47,003,390 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl646,801,377 - 47,003,372 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx647,106,309 - 47,309,277 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0647,421,180 - 47,624,149 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0646,856,453 - 47,059,438 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0649,123,084 - 49,324,530 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl649,123,084 - 49,324,450 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0657,803,704 - 58,004,714 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4648,059,246 - 48,263,991 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1648,062,892 - 48,267,135 (-)NCBI
Celera646,005,091 - 46,207,417 (-)NCBICelera
Cytogenetic Map6q16NCBI
Sntg2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955487533,711 - 639,074 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955487533,719 - 639,056 (-)NCBIChiLan1.0ChiLan1.0
SNTG2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v212125,219,585 - 125,628,480 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12A125,223,558 - 125,632,457 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02A911,002 - 1,317,058 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12A1,020,294 - 1,288,408 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A1,020,261 - 1,288,425 (+)Ensemblpanpan1.1panPan2
SNTG2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.117682,332 - 764,461 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl17684,358 - 764,467 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha17666,433 - 752,017 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.017736,579 - 822,178 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl17695,307 - 822,195 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.117660,741 - 746,303 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.017680,837 - 766,292 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.017680,879 - 766,396 (+)NCBIUU_Cfam_GSD_1.0
SNTG2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.114106,304,115 - 106,703,772 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660455,295,384 - 5,689,797 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Sntg2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248461,966,584 - 2,051,834 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248461,966,577 - 2,051,953 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SNTG2
75 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_018968.3(SNTG2):c.72+66161C>G single nucleotide variant Lung cancer [RCV000091074] Chr2:1017229 [GRCh38]
Chr2:1012915 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_018968.3(SNTG2):c.73-23345G>T single nucleotide variant Lung cancer [RCV000091109] Chr2:1060173 [GRCh38]
Chr2:1055859 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_018968.3(SNTG2):c.412-7023C>T single nucleotide variant Lung cancer [RCV000091162] Chr2:1158525 [GRCh38]
Chr2:1154211 [GRCh37]
Chr2:2p25.3		 uncertain significance
GRCh38/hg38 2p25.3(chr2:1159921-1491401)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052117]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052117]|See cases [RCV000052117] Chr2:1159921..1491401 [GRCh38]
Chr2:1155607..1495173 [GRCh37]
Chr2:1145607..1474180 [NCBI36]
Chr2:2p25.3		 uncertain significance
GRCh38/hg38 2p25.3-24.3(chr2:30141-14494040)x3 copy number gain See cases [RCV000052928] Chr2:30141..14494040 [GRCh38]
Chr2:30141..14634164 [GRCh37]
Chr2:20141..14551615 [NCBI36]
Chr2:2p25.3-24.3		 pathogenic
GRCh38/hg38 2p25.3-23.1(chr2:30141-31766749)x3 copy number gain See cases [RCV000052929] Chr2:30141..31766749 [GRCh38]
Chr2:30141..31991818 [GRCh37]
Chr2:20141..31845322 [NCBI36]
Chr2:2p25.3-23.1		 pathogenic
GRCh38/hg38 2p25.3-24.3(chr2:30342-14866951)x3 copy number gain See cases [RCV000052931] Chr2:30342..14866951 [GRCh38]
Chr2:30342..15007075 [GRCh37]
Chr2:20342..14924526 [NCBI36]
Chr2:2p25.3-24.3		 pathogenic
GRCh38/hg38 2p25.3-25.1(chr2:50661-9652907)x3 copy number gain See cases [RCV000052932] Chr2:50661..9652907 [GRCh38]
Chr2:50661..9793036 [GRCh37]
Chr2:40661..9710487 [NCBI36]
Chr2:2p25.3-25.1		 pathogenic
GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3 copy number gain See cases [RCV000052933] Chr2:66097..55570637 [GRCh38]
Chr2:66097..55797773 [GRCh37]
Chr2:56097..55651277 [NCBI36]
Chr2:2p25.3-16.1		 pathogenic
GRCh38/hg38 2p25.3(chr2:694400-1433587)x3 copy number gain See cases [RCV000052596] Chr2:694400..1433587 [GRCh38]
Chr2:694400..1437359 [GRCh37]
Chr2:684400..1416366 [NCBI36]
Chr2:2p25.3		 uncertain significance
GRCh38/hg38 2p25.3(chr2:860301-1128993)x3 copy number gain See cases [RCV000052597] Chr2:860301..1128993 [GRCh38]
Chr2:854935..1124679 [GRCh37]
Chr2:844935..1114679 [NCBI36]
Chr2:2p25.3		 uncertain significance
GRCh38/hg38 2p25.3(chr2:1110952-1699889)x3 copy number gain See cases [RCV000052598] Chr2:1110952..1699889 [GRCh38]
Chr2:1106638..1703661 [GRCh37]
Chr2:1096638..1682668 [NCBI36]
Chr2:2p25.3		 uncertain significance
GRCh38/hg38 2p25.3(chr2:50661-3293835)x1 copy number loss See cases [RCV000053977] Chr2:50661..3293835 [GRCh38]
Chr2:50661..3297606 [GRCh37]
Chr2:40661..3276613 [NCBI36]
Chr2:2p25.3		 pathogenic
GRCh38/hg38 2p25.3-25.2(chr2:30341-4932359)x3 copy number gain See cases [RCV000133936] Chr2:30341..4932359 [GRCh38]
Chr2:30341..4979949 [GRCh37]
Chr2:20341..4957824 [NCBI36]
Chr2:2p25.3-25.2		 pathogenic
GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3 copy number gain See cases [RCV000135398] Chr2:30341..28419664 [GRCh38]
Chr2:30341..28642531 [GRCh37]
Chr2:20341..28496035 [NCBI36]
Chr2:2p25.3-23.2		 pathogenic
GRCh38/hg38 2p25.3(chr2:30341-1969402)x1 copy number loss See cases [RCV000135569] Chr2:30341..1969402 [GRCh38]
Chr2:30341..1973174 [GRCh37]
Chr2:20341..1952181 [NCBI36]
Chr2:2p25.3		 pathogenic
GRCh38/hg38 2p25.3(chr2:622175-1110952)x3 copy number gain See cases [RCV000135498] Chr2:622175..1110952 [GRCh38]
Chr2:622175..1106638 [GRCh37]
Chr2:612175..1096638 [NCBI36]
Chr2:2p25.3		 benign
GRCh38/hg38 2p25.3(chr2:30341-3449132)x1 copy number loss See cases [RCV000135536] Chr2:30341..3449132 [GRCh38]
Chr2:30341..3452903 [GRCh37]
Chr2:20341..3431910 [NCBI36]
Chr2:2p25.3		 pathogenic
GRCh38/hg38 2p25.3(chr2:888150-1491401)x3 copy number gain See cases [RCV000136993] Chr2:888150..1491401 [GRCh38]
Chr2:883836..1495173 [GRCh37]
Chr2:873836..1474180 [NCBI36]
Chr2:2p25.3		 benign
GRCh38/hg38 2p25.3(chr2:39193-1542734)x1 copy number loss See cases [RCV000136750] Chr2:39193..1542734 [GRCh38]
Chr2:39193..1546506 [GRCh37]
Chr2:29193..1525513 [NCBI36]
Chr2:2p25.3		 pathogenic
GRCh38/hg38 2p25.3(chr2:30341-2656139)x1 copy number loss See cases [RCV000137250] Chr2:30341..2656139 [GRCh38]
Chr2:30341..2659911 [GRCh37]
Chr2:20341..2638918 [NCBI36]
Chr2:2p25.3		 pathogenic|likely benign
GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3 copy number gain See cases [RCV000137344] Chr2:17019..26318846 [GRCh38]
Chr2:17019..26541714 [GRCh37]
Chr2:7019..26395218 [NCBI36]
Chr2:2p25.3-23.3		 pathogenic
GRCh38/hg38 2p25.3(chr2:17019-1645317)x1 copy number loss See cases [RCV000137954] Chr2:17019..1645317 [GRCh38]
Chr2:17019..1649089 [GRCh37]
Chr2:7019..1628096 [NCBI36]
Chr2:2p25.3		 likely pathogenic
GRCh38/hg38 2p25.3(chr2:17019-1029157)x1 copy number loss See cases [RCV000137786] Chr2:17019..1029157 [GRCh38]
Chr2:17019..1024843 [GRCh37]
Chr2:7019..1014843 [NCBI36]
Chr2:2p25.3		 uncertain significance
GRCh38/hg38 2p25.3(chr2:1007275-1205941)x3 copy number gain See cases [RCV000139863] Chr2:1007275..1205941 [GRCh38]
Chr2:1002961..1201627 [GRCh37]
Chr2:992961..1191627 [NCBI36]
Chr2:2p25.3		 uncertain significance
GRCh38/hg38 2p25.3(chr2:17019-2305267)x1 copy number loss See cases [RCV000141392] Chr2:17019..2305267 [GRCh38]
Chr2:17019..2309039 [GRCh37]
Chr2:7019..2288046 [NCBI36]
Chr2:2p25.3		 pathogenic
GRCh38/hg38 2p25.3(chr2:1110952-1714227)x3 copy number gain See cases [RCV000141323] Chr2:1110952..1714227 [GRCh38]
Chr2:1106638..1717999 [GRCh37]
Chr2:1096638..1697006 [NCBI36]
Chr2:2p25.3		 uncertain significance
GRCh38/hg38 2p25.3-24.1(chr2:17019-20001056)x3 copy number gain See cases [RCV000141226] Chr2:17019..20001056 [GRCh38]
Chr2:17019..20200817 [GRCh37]
Chr2:7019..20064298 [NCBI36]
Chr2:2p25.3-24.1		 pathogenic
GRCh38/hg38 2p25.3(chr2:12770-2310816)x1 copy number loss See cases [RCV000140900] Chr2:12770..2310816 [GRCh38]
Chr2:12770..2314588 [GRCh37]
Chr2:2770..2293595 [NCBI36]
Chr2:2p25.3		 likely pathogenic
GRCh38/hg38 2p25.3-25.2(chr2:17019-4957745)x3 copy number gain See cases [RCV000140981] Chr2:17019..4957745 [GRCh38]
Chr2:17019..5005335 [GRCh37]
Chr2:7019..4983210 [NCBI36]
Chr2:2p25.3-25.2		 likely pathogenic
GRCh38/hg38 2p25.3(chr2:848908-1110952)x3 copy number gain See cases [RCV000141065] Chr2:848908..1110952 [GRCh38]
Chr2:844940..1106638 [GRCh37]
Chr2:834940..1096638 [NCBI36]
Chr2:2p25.3		 benign
GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3 copy number gain See cases [RCV000141829] Chr2:12770..33711509 [GRCh38]
Chr2:12770..33936576 [GRCh37]
Chr2:2770..33790080 [NCBI36]
Chr2:2p25.3-22.3		 pathogenic
GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3 copy number gain See cases [RCV000141877] Chr2:12770..25039694 [GRCh38]
Chr2:12770..25262563 [GRCh37]
Chr2:2770..25116067 [NCBI36]
Chr2:2p25.3-23.3		 pathogenic
GRCh38/hg38 2p25.3(chr2:330108-1021300)x3 copy number gain See cases [RCV000141841] Chr2:330108..1021300 [GRCh38]
Chr2:330108..1016986 [GRCh37]
Chr2:320108..1006986 [NCBI36]
Chr2:2p25.3		 uncertain significance
GRCh38/hg38 2p25.3(chr2:12770-2748672)x1 copy number loss See cases [RCV000141849] Chr2:12770..2748672 [GRCh38]
Chr2:12770..2752444 [GRCh37]
Chr2:2770..2731451 [NCBI36]
Chr2:2p25.3		 pathogenic
GRCh38/hg38 2p25.3(chr2:39193-992648)x1 copy number loss See cases [RCV000141588] Chr2:39193..992648 [GRCh38]
Chr2:39193..988334 [GRCh37]
Chr2:29193..978334 [NCBI36]
Chr2:2p25.3		 uncertain significance
GRCh38/hg38 2p25.3(chr2:888150-1784776)x3 copy number gain See cases [RCV000141613] Chr2:888150..1784776 [GRCh38]
Chr2:883836..1788548 [GRCh37]
Chr2:873836..1767555 [NCBI36]
Chr2:2p25.3		 uncertain significance
GRCh38/hg38 2p25.3(chr2:131730-2713517)x1 copy number loss See cases [RCV000142884] Chr2:131730..2713517 [GRCh38]
Chr2:131730..2717289 [GRCh37]
Chr2:121730..2696296 [NCBI36]
Chr2:2p25.3		 pathogenic
GRCh38/hg38 2p25.3-25.2(chr2:30341-4642399)x3 copy number gain See cases [RCV000142735] Chr2:30341..4642399 [GRCh38]
Chr2:30341..4689989 [GRCh37]
Chr2:20341..4667864 [NCBI36]
Chr2:2p25.3-25.2		 pathogenic
GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3 copy number gain See cases [RCV000143682] Chr2:236816..45983232 [GRCh38]
Chr2:236816..46210371 [GRCh37]
Chr2:226816..46063875 [NCBI36]
Chr2:2p25.3-21		 pathogenic
GRCh38/hg38 2p25.3(chr2:12770-4318861)x3 copy number gain See cases [RCV000143781] Chr2:12770..4318861 [GRCh38]
Chr2:12770..4366451 [GRCh37]
Chr2:2770..4344326 [NCBI36]
Chr2:2p25.3		 uncertain significance
GRCh37/hg19 2p25.3(chr2:1151154-1500627)x1 copy number loss See cases [RCV000240215] Chr2:1151154..1500627 [GRCh37]
Chr2:2p25.3		 uncertain significance
GRCh37/hg19 2p25.3(chr2:1080528-1231315)x1 copy number loss See cases [RCV000447151] Chr2:1080528..1231315 [GRCh37]
Chr2:2p25.3		 likely benign
GRCh37/hg19 2p25.3(chr2:386460-978269)x3 copy number gain See cases [RCV000447432] Chr2:386460..978269 [GRCh37]
Chr2:2p25.3		 likely benign
GRCh37/hg19 2p25.3(chr2:247589-1453153)x1 copy number loss See cases [RCV000446694] Chr2:247589..1453153 [GRCh37]
Chr2:2p25.3		 likely benign
GRCh37/hg19 2p25.3(chr2:528352-2564992)x1 copy number loss Intellectual disability, autosomal dominant 39 [RCV000448420] Chr2:528352..2564992 [GRCh37]
Chr2:2p25.3		 pathogenic|uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p25.3(chr2:325882-1025239)x3 copy number gain See cases [RCV000510657] Chr2:325882..1025239 [GRCh37]
Chr2:2p25.3		 uncertain significance
GRCh37/hg19 2p25.3(chr2:160274-1293314)x3 copy number gain See cases [RCV000510559] Chr2:160274..1293314 [GRCh37]
Chr2:2p25.3		 uncertain significance
GRCh37/hg19 2p25.3-24.1(chr2:12770-20081474)x3 copy number gain See cases [RCV000510934] Chr2:12770..20081474 [GRCh37]
Chr2:2p25.3-24.1		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_018968.4(SNTG2):c.1048C>T (p.Leu350Phe) single nucleotide variant not specified [RCV004310312] Chr2:1259412 [GRCh38]
Chr2:1263184 [GRCh37]
Chr2:2p25.3		 uncertain significance
GRCh37/hg19 2p25.3(chr2:1080273-1231315)x1 copy number loss not provided [RCV000682015] Chr2:1080273..1231315 [GRCh37]
Chr2:2p25.3		 uncertain significance
GRCh37/hg19 2p25.3(chr2:1252376-1865090)x3 copy number gain not provided [RCV000682092] Chr2:1252376..1865090 [GRCh37]
Chr2:2p25.3		 likely pathogenic|uncertain significance
GRCh37/hg19 2p25.3(chr2:995005-1670069)x3 copy number gain not provided [RCV000682098] Chr2:995005..1670069 [GRCh37]
Chr2:2p25.3		 uncertain significance
GRCh37/hg19 2p25.3(chr2:618762-1565658)x1 copy number loss not provided [RCV000682108] Chr2:618762..1565658 [GRCh37]
Chr2:2p25.3		 uncertain significance
GRCh37/hg19 2p25.3-25.2(chr2:12770-4823625)x3 copy number gain not provided [RCV000682156] Chr2:12770..4823625 [GRCh37]
Chr2:2p25.3-25.2		 pathogenic
Single allele deletion not provided [RCV000677937] Chr2:1151154..1500627 [GRCh37]
Chr2:2p25.3		 uncertain significance
Single allele deletion not provided [RCV000677954] Chr2:1155600..1577713 [GRCh37]
Chr2:2p25.3		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p25.3(chr2:658937-2456024)x3 copy number gain not provided [RCV000752815] Chr2:658937..2456024 [GRCh37]
Chr2:2p25.3		 likely benign
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p25.3(chr2:1088657-1216562)x1 copy number loss not provided [RCV000740285] Chr2:1088657..1216562 [GRCh37]
Chr2:2p25.3		 benign
GRCh37/hg19 2p25.3(chr2:1138847-1151188)x1 copy number loss not provided [RCV000740286] Chr2:1138847..1151188 [GRCh37]
Chr2:2p25.3		 benign
NM_018968.4(SNTG2):c.516C>T (p.Ser172=) single nucleotide variant not provided [RCV000885111] Chr2:1173108 [GRCh38]
Chr2:1168794 [GRCh37]
Chr2:2p25.3		 benign
NM_018968.4(SNTG2):c.611C>T (p.Ser204Leu) single nucleotide variant not provided [RCV000971855] Chr2:1209122 [GRCh38]
Chr2:1204808 [GRCh37]
Chr2:2p25.3		 likely benign
NM_018968.4(SNTG2):c.813G>A (p.Ala271=) single nucleotide variant not provided [RCV000903705] Chr2:1237981 [GRCh38]
Chr2:1241753 [GRCh37]
Chr2:2p25.3		 benign
NM_018968.4(SNTG2):c.894G>A (p.Val298=) single nucleotide variant not provided [RCV000923507] Chr2:1247332 [GRCh38]
Chr2:1251104 [GRCh37]
Chr2:2p25.3		 likely benign
NM_018968.4(SNTG2):c.468G>A (p.Arg156=) single nucleotide variant not provided [RCV000946586] Chr2:1165604 [GRCh38]
Chr2:1161290 [GRCh37]
Chr2:2p25.3		 benign
NM_018968.4(SNTG2):c.693G>A (p.Arg231=) single nucleotide variant not provided [RCV000927995] Chr2:1209204 [GRCh38]
Chr2:1204890 [GRCh37]
Chr2:2p25.3		 likely benign
NM_018968.4(SNTG2):c.143C>T (p.Thr48Met) single nucleotide variant not provided [RCV000898492] Chr2:1083588 [GRCh38]
Chr2:1079274 [GRCh37]
Chr2:2p25.3		 likely benign
NM_018968.4(SNTG2):c.149A>C (p.Glu50Ala) single nucleotide variant not provided [RCV000961027] Chr2:1083594 [GRCh38]
Chr2:1079280 [GRCh37]
Chr2:2p25.3		 benign
NM_018968.4(SNTG2):c.883G>C (p.Asp295His) single nucleotide variant High myopia [RCV000785676] Chr2:1239771 [GRCh38]
Chr2:1243543 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_018968.4(SNTG2):c.477G>A (p.Pro159=) single nucleotide variant not provided [RCV000915519] Chr2:1165613 [GRCh38]
Chr2:1161299 [GRCh37]
Chr2:2p25.3		 likely benign
GRCh37/hg19 2p25.3(chr2:12770-2348876)x1 copy number loss not provided [RCV000848970] Chr2:12770..2348876 [GRCh37]
Chr2:2p25.3		 pathogenic
GRCh37/hg19 2p25.3(chr2:788889-1053456)x3 copy number gain not provided [RCV000849519] Chr2:788889..1053456 [GRCh37]
Chr2:2p25.3		 uncertain significance
GRCh37/hg19 2p25.3(chr2:1091420-1231315)x1 copy number loss not provided [RCV000849920] Chr2:1091420..1231315 [GRCh37]
Chr2:2p25.3		 uncertain significance
GRCh37/hg19 2p25.3(chr2:922539-985369)x1 copy number loss not provided [RCV000848147] Chr2:922539..985369 [GRCh37]
Chr2:2p25.3		 uncertain significance
GRCh37/hg19 2p25.3(chr2:776559-1037783)x3 copy number gain not provided [RCV000845804] Chr2:776559..1037783 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_018968.4(SNTG2):c.558C>T (p.Ser186=) single nucleotide variant not provided [RCV000894987] Chr2:1173150 [GRCh38]
Chr2:1168836 [GRCh37]
Chr2:2p25.3		 likely benign
GRCh37/hg19 2p25.3(chr2:12770-3000954)x1 copy number loss not provided [RCV001005218] Chr2:12770..3000954 [GRCh37]
Chr2:2p25.3		 pathogenic
GRCh37/hg19 2p25.3-25.1(chr2:12770-7502796)x3 copy number gain not provided [RCV000847256] Chr2:12770..7502796 [GRCh37]
Chr2:2p25.3-25.1		 pathogenic
GRCh37/hg19 2p25.3-25.1(chr2:12770-7502796)x3 copy number gain not provided [RCV000847257] Chr2:12770..7502796 [GRCh37]
Chr2:2p25.3-25.1		 pathogenic
GRCh37/hg19 2p25.3(chr2:12770-2832894)x1 copy number loss not provided [RCV000846709] Chr2:12770..2832894 [GRCh37]
Chr2:2p25.3		 pathogenic
GRCh37/hg19 2p25.3(chr2:843845-1862481)x3 copy number gain not provided [RCV000846011] Chr2:843845..1862481 [GRCh37]
Chr2:2p25.3		 uncertain significance
GRCh37/hg19 2p25.3(chr2:1131015-1345948)x1 copy number loss not provided [RCV000847287] Chr2:1131015..1345948 [GRCh37]
Chr2:2p25.3		 uncertain significance
GRCh37/hg19 2p25.3(chr2:788889-1053456)x3 copy number gain not provided [RCV000849478] Chr2:788889..1053456 [GRCh37]
Chr2:2p25.3		 uncertain significance
GRCh37/hg19 2p25.3(chr2:1045542-4104255)x3 copy number gain not provided [RCV001005221] Chr2:1045542..4104255 [GRCh37]
Chr2:2p25.3		 uncertain significance
GRCh37/hg19 2p25.3(chr2:1097715-1231315)x4 copy number gain not provided [RCV000847501] Chr2:1097715..1231315 [GRCh37]
Chr2:2p25.3		 uncertain significance
GRCh37/hg19 2p25.3(chr2:12770-3819558)x3 copy number gain not provided [RCV000846909] Chr2:12770..3819558 [GRCh37]
Chr2:2p25.3		 uncertain significance
GRCh37/hg19 2p25.3(chr2:1269373-1542297)x3 copy number gain not provided [RCV000847502] Chr2:1269373..1542297 [GRCh37]
Chr2:2p25.3		 uncertain significance
GRCh37/hg19 2p25.3(chr2:1193606-1315346)x3 copy number gain not provided [RCV000847297] Chr2:1193606..1315346 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_018968.4(SNTG2):c.203G>A (p.Gly68Asp) single nucleotide variant not specified [RCV004311611] Chr2:1083648 [GRCh38]
Chr2:1079334 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_018968.4(SNTG2):c.171A>G (p.Gln57=) single nucleotide variant not provided [RCV000885377] Chr2:1083616 [GRCh38]
Chr2:1079302 [GRCh37]
Chr2:2p25.3		 benign
NM_018968.4(SNTG2):c.1119T>C (p.Tyr373=) single nucleotide variant not provided [RCV000924483] Chr2:1267406 [GRCh38]
Chr2:1271178 [GRCh37]
Chr2:2p25.3		 likely benign
NM_018968.4(SNTG2):c.663C>G (p.Ser221=) single nucleotide variant not provided [RCV000898233] Chr2:1209174 [GRCh38]
Chr2:1204860 [GRCh37]
Chr2:2p25.3		 benign
NM_018968.4(SNTG2):c.1179C>T (p.Ala393=) single nucleotide variant not provided [RCV000912539] Chr2:1267466 [GRCh38]
Chr2:1271238 [GRCh37]
Chr2:2p25.3		 likely benign
NM_018968.4(SNTG2):c.1570G>C (p.Gly524Arg) single nucleotide variant not provided [RCV000955903] Chr2:1367424 [GRCh38]
Chr2:1371196 [GRCh37]
Chr2:2p25.3		 benign
GRCh37/hg19 2p25.3(chr2:1033756-1252097)x3 copy number gain not provided [RCV002472900] Chr2:1033756..1252097 [GRCh37]
Chr2:2p25.3		 uncertain significance
GRCh37/hg19 2p25.3(chr2:1118313-1604447)x1 copy number loss not provided [RCV002473852] Chr2:1118313..1604447 [GRCh37]
Chr2:2p25.3		 uncertain significance
GRCh37/hg19 2p25.3(chr2:1364047-1727590)x3 copy number gain not provided [RCV001005222] Chr2:1364047..1727590 [GRCh37]
Chr2:2p25.3		 likely benign
GRCh37/hg19 2p25.3(chr2:788526-1066793)x3 copy number gain not provided [RCV001259160] Chr2:788526..1066793 [GRCh37]
Chr2:2p25.3		 likely benign
GRCh37/hg19 2p25.3(chr2:12770-1680334)x1 copy number loss not provided [RCV001259635] Chr2:12770..1680334 [GRCh37]
Chr2:2p25.3		 uncertain significance
GRCh37/hg19 2p25.3(chr2:12770-1126253)x1 copy number loss not provided [RCV001259636] Chr2:12770..1126253 [GRCh37]
Chr2:2p25.3		 uncertain significance
GRCh37/hg19 2p25.3(chr2:936693-989963)x1 copy number loss not provided [RCV001259637] Chr2:936693..989963 [GRCh37]
Chr2:2p25.3		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p25.3(chr2:10501-2386917)x1 copy number loss Intellectual disability, autosomal dominant 39 [RCV001801227] Chr2:10501..2386917 [GRCh37]
Chr2:2p25.3		 pathogenic
GRCh37/hg19 2p25.3(chr2:637829-1945590) copy number loss not specified [RCV002053023] Chr2:637829..1945590 [GRCh37]
Chr2:2p25.3		 pathogenic
GRCh37/hg19 2p25.3(chr2:528352-2564992) copy number loss not specified [RCV002053012] Chr2:528352..2564992 [GRCh37]
Chr2:2p25.3		 pathogenic
GRCh37/hg19 2p25.3(chr2:12771-1947832)x1 copy number loss not provided [RCV002474573] Chr2:12771..1947832 [GRCh37]
Chr2:2p25.3		 pathogenic
GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3 copy number gain not provided [RCV002473946] Chr2:706460..35523639 [GRCh37]
Chr2:2p25.3-22.3		 pathogenic
NM_018968.4(SNTG2):c.1502A>G (p.Gln501Arg) single nucleotide variant not specified [RCV004199612] Chr2:1367356 [GRCh38]
Chr2:1371128 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_018968.4(SNTG2):c.1561G>A (p.Val521Met) single nucleotide variant not specified [RCV004244297] Chr2:1367415 [GRCh38]
Chr2:1371187 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_018968.4(SNTG2):c.644G>A (p.Arg215His) single nucleotide variant not specified [RCV004186855] Chr2:1209155 [GRCh38]
Chr2:1204841 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_018968.4(SNTG2):c.559G>A (p.Gly187Ser) single nucleotide variant not specified [RCV004237694] Chr2:1173151 [GRCh38]
Chr2:1168837 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_018968.4(SNTG2):c.869G>A (p.Cys290Tyr) single nucleotide variant not specified [RCV004199613] Chr2:1239757 [GRCh38]
Chr2:1243529 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_018968.4(SNTG2):c.683G>A (p.Arg228His) single nucleotide variant not specified [RCV004230094] Chr2:1209194 [GRCh38]
Chr2:1204880 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_018968.4(SNTG2):c.110C>A (p.Ser37Tyr) single nucleotide variant not specified [RCV004158089] Chr2:1083555 [GRCh38]
Chr2:1079241 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_018968.4(SNTG2):c.224C>A (p.Thr75Lys) single nucleotide variant not specified [RCV004141818] Chr2:1098209 [GRCh38]
Chr2:1093895 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_018968.4(SNTG2):c.1439G>C (p.Arg480Pro) single nucleotide variant not specified [RCV004160730] Chr2:1316326 [GRCh38]
Chr2:1320098 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_018968.4(SNTG2):c.1277G>A (p.Arg426Lys) single nucleotide variant not specified [RCV004195111] Chr2:1267564 [GRCh38]
Chr2:1271336 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_018968.4(SNTG2):c.128T>C (p.Ile43Thr) single nucleotide variant not specified [RCV004233026] Chr2:1083573 [GRCh38]
Chr2:1079259 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_018968.4(SNTG2):c.91C>A (p.Leu31Met) single nucleotide variant not specified [RCV004161332] Chr2:1083536 [GRCh38]
Chr2:1079222 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_018968.4(SNTG2):c.1142T>C (p.Phe381Ser) single nucleotide variant not specified [RCV004144659] Chr2:1267429 [GRCh38]
Chr2:1271201 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_018968.4(SNTG2):c.846G>T (p.Gln282His) single nucleotide variant not specified [RCV004207111] Chr2:1238014 [GRCh38]
Chr2:1241786 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_018968.4(SNTG2):c.43C>G (p.Arg15Gly) single nucleotide variant not specified [RCV004170589] Chr2:951039 [GRCh38]
Chr2:946725 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_018968.4(SNTG2):c.584G>A (p.Ser195Asn) single nucleotide variant not specified [RCV004148619] Chr2:1173176 [GRCh38]
Chr2:1168862 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_018968.4(SNTG2):c.201G>C (p.Gln67His) single nucleotide variant not specified [RCV004205574] Chr2:1083646 [GRCh38]
Chr2:1079332 [GRCh37]
Chr2:2p25.3		 likely benign
NM_018968.4(SNTG2):c.1280C>G (p.Thr427Ser) single nucleotide variant not specified [RCV004075088] Chr2:1267567 [GRCh38]
Chr2:1271339 [GRCh37]
Chr2:2p25.3		 likely benign
NM_018968.4(SNTG2):c.725A>G (p.Asn242Ser) single nucleotide variant not specified [RCV004104768] Chr2:1237893 [GRCh38]
Chr2:1241665 [GRCh37]
Chr2:2p25.3		 likely benign
NM_018968.4(SNTG2):c.643C>T (p.Arg215Cys) single nucleotide variant not specified [RCV004080473] Chr2:1209154 [GRCh38]
Chr2:1204840 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_018968.4(SNTG2):c.1343C>T (p.Ala448Val) single nucleotide variant not specified [RCV004270583] Chr2:1308552 [GRCh38]
Chr2:1312324 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_018968.4(SNTG2):c.384T>G (p.His128Gln) single nucleotide variant not specified [RCV004276418] Chr2:1137782 [GRCh38]
Chr2:1133468 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_018968.4(SNTG2):c.1495G>A (p.Glu499Lys) single nucleotide variant not specified [RCV004252520] Chr2:1367349 [GRCh38]
Chr2:1371121 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_018968.4(SNTG2):c.703G>A (p.Gly235Arg) single nucleotide variant not specified [RCV004256849] Chr2:1209214 [GRCh38]
Chr2:1204900 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_018968.4(SNTG2):c.476C>T (p.Pro159Leu) single nucleotide variant not specified [RCV004252705] Chr2:1165612 [GRCh38]
Chr2:1161298 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_018968.4(SNTG2):c.1379A>C (p.Asn460Thr) single nucleotide variant not specified [RCV004270137] Chr2:1316266 [GRCh38]
Chr2:1320038 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_018968.4(SNTG2):c.1160A>G (p.Tyr387Cys) single nucleotide variant not specified [RCV004264543] Chr2:1267447 [GRCh38]
Chr2:1271219 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_018968.4(SNTG2):c.952C>G (p.Pro318Ala) single nucleotide variant not specified [RCV004267615] Chr2:1247390 [GRCh38]
Chr2:1251162 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_018968.4(SNTG2):c.860C>T (p.Ala287Val) single nucleotide variant not specified [RCV004253848] Chr2:1239748 [GRCh38]
Chr2:1243520 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_018968.4(SNTG2):c.211C>T (p.Arg71Cys) single nucleotide variant not specified [RCV004300010] Chr2:1098196 [GRCh38]
Chr2:1093882 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_018968.4(SNTG2):c.103G>A (p.Glu35Lys) single nucleotide variant not specified [RCV004358998] Chr2:1083548 [GRCh38]
Chr2:1079234 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_018968.4(SNTG2):c.984C>A (p.Phe328Leu) single nucleotide variant not specified [RCV004346497] Chr2:1247422 [GRCh38]
Chr2:1251194 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_018968.4(SNTG2):c.1364A>G (p.Glu455Gly) single nucleotide variant not specified [RCV004336287] Chr2:1308573 [GRCh38]
Chr2:1312345 [GRCh37]
Chr2:2p25.3		 uncertain significance
GRCh37/hg19 2p25.3(chr2:12770-2832894)x1 copy number loss Intellectual disability, autosomal dominant 39 [RCV003458261] Chr2:12770..2832894 [GRCh37]
Chr2:2p25.3		 pathogenic
GRCh37/hg19 2p25.3(chr2:663174-1352586)x4 copy number gain not provided [RCV003485340] Chr2:663174..1352586 [GRCh37]
Chr2:2p25.3		 uncertain significance
GRCh37/hg19 2p25.3(chr2:210212-1048484)x3 copy number gain not provided [RCV003484059] Chr2:210212..1048484 [GRCh37]
Chr2:2p25.3		 uncertain significance
GRCh37/hg19 2p25.3(chr2:12771-1030521)x1 copy number loss not provided [RCV003484594] Chr2:12771..1030521 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_018968.4(SNTG2):c.1438C>T (p.Arg480Ter) single nucleotide variant not provided [RCV003491533] Chr2:1316325 [GRCh38]
Chr2:1320097 [GRCh37]
Chr2:2p25.3		 uncertain significance
GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3 copy number gain See cases [RCV004442780] Chr2:12771..35541353 [GRCh37]
Chr2:2p25.3-22.3		 pathogenic
NM_018968.4(SNTG2):c.349G>T (p.Val117Leu) single nucleotide variant not specified [RCV004464470] Chr2:1137645 [GRCh38]
Chr2:1133331 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_018968.4(SNTG2):c.533G>C (p.Gly178Ala) single nucleotide variant not specified [RCV004464472] Chr2:1173125 [GRCh38]
Chr2:1168811 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_018968.4(SNTG2):c.638A>G (p.Glu213Gly) single nucleotide variant not specified [RCV004464473] Chr2:1209149 [GRCh38]
Chr2:1204835 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_018968.4(SNTG2):c.17C>T (p.Pro6Leu) single nucleotide variant not specified [RCV004464468] Chr2:951013 [GRCh38]
Chr2:946699 [GRCh37]
Chr2:2p25.3		 uncertain significance
GRCh37/hg19 2p25.3(chr2:11314-3033976)x1 copy number loss not provided [RCV004577472] Chr2:11314..3033976 [GRCh37]
Chr2:2p25.3		 pathogenic
NM_018968.4(SNTG2):c.217A>G (p.Thr73Ala) single nucleotide variant not specified [RCV004464469] Chr2:1098202 [GRCh38]
Chr2:1093888 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_018968.4(SNTG2):c.1063T>C (p.Phe355Leu) single nucleotide variant not specified [RCV004464463] Chr2:1259427 [GRCh38]
Chr2:1263199 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_018968.4(SNTG2):c.124G>A (p.Asp42Asn) single nucleotide variant not specified [RCV004464464] Chr2:1083569 [GRCh38]
Chr2:1079255 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_018968.4(SNTG2):c.1298T>C (p.Met433Thr) single nucleotide variant not specified [RCV004464466] Chr2:1308507 [GRCh38]
Chr2:1312279 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_018968.4(SNTG2):c.1339T>A (p.Phe447Ile) single nucleotide variant not specified [RCV004464467] Chr2:1308548 [GRCh38]
Chr2:1312320 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_018968.4(SNTG2):c.808C>T (p.Arg270Trp) single nucleotide variant not specified [RCV004670358] Chr2:1237976 [GRCh38]
Chr2:1241748 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_018968.4(SNTG2):c.802T>C (p.Trp268Arg) single nucleotide variant not specified [RCV004670359] Chr2:1237970 [GRCh38]
Chr2:1241742 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_018968.4(SNTG2):c.778T>C (p.Tyr260His) single nucleotide variant not specified [RCV004670360] Chr2:1237946 [GRCh38]
Chr2:1241718 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_018968.4(SNTG2):c.31G>A (p.Ala11Thr) single nucleotide variant not specified [RCV004670361] Chr2:951027 [GRCh38]
Chr2:946713 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_018968.4(SNTG2):c.112G>A (p.Glu38Lys) single nucleotide variant not specified [RCV004670362] Chr2:1083557 [GRCh38]
Chr2:1079243 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_018968.4(SNTG2):c.494C>T (p.Pro165Leu) single nucleotide variant not specified [RCV004670364] Chr2:1165630 [GRCh38]
Chr2:1161316 [GRCh37]
Chr2:2p25.3		 uncertain significance
NM_018968.4(SNTG2):c.1439G>A (p.Arg480Gln) single nucleotide variant not specified [RCV004286345] Chr2:1316326 [GRCh38]
Chr2:1320098 [GRCh37]
Chr2:2p25.3		 uncertain significance
GRCh37/hg19 2p25.3(chr2:959840-1655144)x3 copy number gain not provided [RCV001005220] Chr2:959840..1655144 [GRCh37]
Chr2:2p25.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2212
Count of miRNA genes:921
Interacting mature miRNAs:1073
Transcripts:ENST00000308624, ENST00000407292, ENST00000450962, ENST00000452177, ENST00000463442, ENST00000467759, ENST00000471239, ENST00000472606, ENST00000475201, ENST00000489646, ENST00000494178, ENST00000498321
Prediction methods: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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406983843GWAS632819_HAbnormality of chromosome segregation QTL GWAS632819 (human)0.000007Abnormality of chromosome segregation210750961075097Human
406915042GWAS564018_Hbody mass index QTL GWAS564018 (human)6e-10body mass indexbody mass index (BMI) (CMO:0000105)2979034979035Human
406898789GWAS547765_Hintelligence, response to cranial radiation therapy QTL GWAS547765 (human)0.000006intelligence, response to cranial radiation therapy212054811205482Human
406970982GWAS619958_Hbody mass index QTL GWAS619958 (human)6e-10body mass indexbody mass index (BMI) (CMO:0000105)2954605954606Human
406908903GWAS557879_Hquality of life during menstruation measurement, decreased attention QTL GWAS557879 (human)0.000007quality of life during menstruation measurement, decreased attention210998161099817Human
406914472GWAS563448_Hsquamous cell lung carcinoma, family history of lung cancer QTL GWAS563448 (human)0.000006squamous cell lung carcinoma, family history of lung cancer2959403959404Human
407161103GWAS810079_Hbody mass index QTL GWAS810079 (human)3e-11body mass indexbody mass index (BMI) (CMO:0000105)2954605954606Human
406911853GWAS560829_Hparenchymal hematoma, response to recombinant tissue-plasminogen activator QTL GWAS560829 (human)0.000002parenchymal hematoma, response to recombinant tissue-plasminogen activator210513901051391Human
406894063GWAS543039_Hforced expiratory volume, response to bronchodilator QTL GWAS543039 (human)0.0000002forced expiratory volume, response to bronchodilatorforced expiratory volume (CMO:0000254)2969893969894Human
407139669GWAS788645_Hcolor vision disorder QTL GWAS788645 (human)0.000004color vision disorder212581071258108Human
406917136GWAS566112_Halcohol consumption measurement QTL GWAS566112 (human)4e-08alcohol consumption measurementethanol drink intake rate (CMO:0001407)213416241341625Human
406927544GWAS576520_Hschizophrenia QTL GWAS576520 (human)0.000004schizophrenia2956472956473Human
406921400GWAS570376_HCOVID-19, mortality QTL GWAS570376 (human)0.000009COVID-19ratio of deaths to total study population during a period of time (CMO:0001023)210922541092255Human
406896954GWAS545930_Hbody mass index QTL GWAS545930 (human)1e-11body mass indexbody mass index (BMI) (CMO:0000105)2954605954606Human
406907514GWAS556490_Haortic stenosis, aortic valve calcification QTL GWAS556490 (human)0.000009aortic stenosis, aortic valve calcification213223711322372Human
407169599GWAS818575_HFEV/FVC ratio, response to bronchodilator QTL GWAS818575 (human)0.000004FEV/FVC ratio, response to bronchodilatorforced expiratory volume to forced vital capacity ratio (CMO:0000241)2969893969894Human
406889501GWAS538477_Hcarboxypeptidase B2 measurement QTL GWAS538477 (human)0.0000005carboxypeptidase B2 measurement213481181348119Human

Markers in Region
RH99251  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372945,402 - 945,533UniSTSGRCh37
Build 362935,402 - 935,533RGDNCBI36
Cytogenetic Map2p25.3UniSTS
HuRef2946,086 - 946,217UniSTS
GeneMap99-GB4 RH Map220.38UniSTS
SHGC-84728  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3721,137,953 - 1,138,234UniSTSGRCh37
Build 3621,127,953 - 1,128,234RGDNCBI36
Celera21,201,124 - 1,201,404RGD
Cytogenetic Map2p25.3UniSTS
HuRef21,133,386 - 1,133,666UniSTS
TNG Radiation Hybrid Map2552.0UniSTS
RH120160  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3721,184,099 - 1,184,426UniSTSGRCh37
Build 3621,174,099 - 1,174,426RGDNCBI36
Celera21,247,055 - 1,247,382RGD
Cytogenetic Map2p25.3UniSTS
HuRef21,180,122 - 1,180,449UniSTS
TNG Radiation Hybrid Map2589.0UniSTS
SHGC-110410  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3721,036,222 - 1,036,551UniSTSGRCh37
Build 3621,026,222 - 1,026,551RGDNCBI36
Celera21,100,753 - 1,101,082RGD
Cytogenetic Map2p25.3UniSTS
HuRef21,035,606 - 1,035,935UniSTS
TNG Radiation Hybrid Map2334.0UniSTS
SHGC-155704  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3721,369,786 - 1,370,112UniSTSGRCh37
Build 3621,348,793 - 1,349,119RGDNCBI36
Celera21,419,573 - 1,419,897RGD
Cytogenetic Map2p25.3UniSTS
HuRef21,361,346 - 1,361,672UniSTS
TNG Radiation Hybrid Map247658.0UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
1204 2278 2767 2181 4771 1379 1833 298 1425 137 2170 6122 5856 22 3638 1 700 1585 1426 165

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_018968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047444794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047444795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047444798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054342596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054342597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054342598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054342599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054342600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054342601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054342602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054342603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054342604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054342605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054342606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054342607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054342608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054342609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC108462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC108489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC114808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC116614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC140476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC144444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC144527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC206596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC225604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ003029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC125251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG208326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000308624   ⟹   ENSP00000311837
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2950,849 - 1,367,613 (+)Ensembl
Ensembl Acc Id: ENST00000407292   ⟹   ENSP00000385020
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2950,939 - 1,367,613 (+)Ensembl
Ensembl Acc Id: ENST00000450962   ⟹   ENSP00000401997
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2950,868 - 1,165,635 (+)Ensembl
Ensembl Acc Id: ENST00000452177   ⟹   ENSP00000412249
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2950,868 - 1,161,671 (+)Ensembl
Ensembl Acc Id: ENST00000463442
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl21,102,546 - 1,209,230 (+)Ensembl
Ensembl Acc Id: ENST00000467759
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl21,163,247 - 1,220,057 (+)Ensembl
Ensembl Acc Id: ENST00000471239
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl21,262,844 - 1,367,448 (+)Ensembl
Ensembl Acc Id: ENST00000472606
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl21,353,688 - 1,367,613 (+)Ensembl
Ensembl Acc Id: ENST00000475201
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl21,163,247 - 1,220,057 (+)Ensembl
Ensembl Acc Id: ENST00000489646
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl21,247,325 - 1,256,604 (+)Ensembl
Ensembl Acc Id: ENST00000494178
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl21,163,563 - 1,242,785 (+)Ensembl
Ensembl Acc Id: ENST00000498321
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl21,209,129 - 1,220,057 (+)Ensembl
RefSeq Acc Id: NM_018968   ⟹   NP_061841
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382950,849 - 1,367,613 (+)NCBI
GRCh372946,554 - 1,371,401 (+)NCBI
Build 362936,555 - 1,253,924 (+)NCBI Archive
Celera21,012,573 - 1,421,170 (+)RGD
HuRef2947,238 - 1,264,560 (+)RGD
HuRef21,304,887 - 1,362,945 (+)NCBI
CHM1_12944,386 - 1,363,779 (+)NCBI
T2T-CHM13v2.02950,782 - 1,369,232 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017004361   ⟹   XP_016859850
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3821,018,906 - 1,367,613 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017004362   ⟹   XP_016859851
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3821,018,900 - 1,316,333 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017004363   ⟹   XP_016859852
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3821,083,532 - 1,367,613 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017004364   ⟹   XP_016859853
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3821,103,621 - 1,367,613 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017004365   ⟹   XP_016859854
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3821,018,905 - 1,278,950 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017004366   ⟹   XP_016859855
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3821,018,905 - 1,269,349 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017004368   ⟹   XP_016859857
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3821,018,905 - 1,256,610 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017004369   ⟹   XP_016859858
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3821,018,905 - 1,249,654 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017004370   ⟹   XP_016859859
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3821,018,905 - 1,249,654 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017004371   ⟹   XP_016859860
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3821,018,904 - 1,243,805 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017004372   ⟹   XP_016859861
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3821,018,904 - 1,247,415 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017004374   ⟹   XP_016859863
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3821,018,899 - 1,247,415 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047444794   ⟹   XP_047300750
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3821,098,224 - 1,367,613 (+)NCBI
RefSeq Acc Id: XM_047444795   ⟹   XP_047300751
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382950,849 - 1,256,610 (+)NCBI
RefSeq Acc Id: XM_047444798   ⟹   XP_047300754
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3821,018,899 - 1,243,805 (+)NCBI
RefSeq Acc Id: XM_054342596   ⟹   XP_054198571
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.021,018,752 - 1,369,232 (+)NCBI
RefSeq Acc Id: XM_054342597   ⟹   XP_054198572
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.021,018,746 - 1,319,595 (+)NCBI
RefSeq Acc Id: XM_054342598   ⟹   XP_054198573
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.021,018,751 - 1,369,232 (+)NCBI
RefSeq Acc Id: XM_054342599   ⟹   XP_054198574
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.021,083,461 - 1,369,232 (+)NCBI
RefSeq Acc Id: XM_054342600   ⟹   XP_054198575
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.021,018,751 - 1,281,693 (+)NCBI
RefSeq Acc Id: XM_054342601   ⟹   XP_054198576
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.021,018,751 - 1,276,305 (+)NCBI
RefSeq Acc Id: XM_054342602   ⟹   XP_054198577
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.021,097,330 - 1,369,232 (+)NCBI
RefSeq Acc Id: XM_054342603   ⟹   XP_054198578
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.021,018,751 - 1,259,298 (+)NCBI
RefSeq Acc Id: XM_054342604   ⟹   XP_054198579
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02950,782 - 1,259,298 (+)NCBI
RefSeq Acc Id: XM_054342605   ⟹   XP_054198580
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.021,018,750 - 1,252,400 (+)NCBI
RefSeq Acc Id: XM_054342606   ⟹   XP_054198581
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.021,018,751 - 1,252,400 (+)NCBI
RefSeq Acc Id: XM_054342607   ⟹   XP_054198582
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.021,018,750 - 1,246,540 (+)NCBI
RefSeq Acc Id: XM_054342608   ⟹   XP_054198583
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.021,018,750 - 1,250,161 (+)NCBI
RefSeq Acc Id: XM_054342609   ⟹   XP_054198584
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.021,018,745 - 1,250,161 (+)NCBI
Protein Sequences
Protein RefSeqs NP_061841 (Get FASTA)   NCBI Sequence Viewer  
  XP_016859850 (Get FASTA)   NCBI Sequence Viewer  
  XP_016859851 (Get FASTA)   NCBI Sequence Viewer  
  XP_016859852 (Get FASTA)   NCBI Sequence Viewer  
  XP_016859853 (Get FASTA)   NCBI Sequence Viewer  
  XP_016859854 (Get FASTA)   NCBI Sequence Viewer  
  XP_016859855 (Get FASTA)   NCBI Sequence Viewer  
  XP_016859857 (Get FASTA)   NCBI Sequence Viewer  
  XP_016859858 (Get FASTA)   NCBI Sequence Viewer  
  XP_016859859 (Get FASTA)   NCBI Sequence Viewer  
  XP_016859860 (Get FASTA)   NCBI Sequence Viewer  
  XP_016859861 (Get FASTA)   NCBI Sequence Viewer  
  XP_016859863 (Get FASTA)   NCBI Sequence Viewer  
  XP_047300750 (Get FASTA)   NCBI Sequence Viewer  
  XP_047300751 (Get FASTA)   NCBI Sequence Viewer  
  XP_047300754 (Get FASTA)   NCBI Sequence Viewer  
  XP_054198571 (Get FASTA)   NCBI Sequence Viewer  
  XP_054198572 (Get FASTA)   NCBI Sequence Viewer  
  XP_054198573 (Get FASTA)   NCBI Sequence Viewer  
  XP_054198574 (Get FASTA)   NCBI Sequence Viewer  
  XP_054198575 (Get FASTA)   NCBI Sequence Viewer  
  XP_054198576 (Get FASTA)   NCBI Sequence Viewer  
  XP_054198577 (Get FASTA)   NCBI Sequence Viewer  
  XP_054198578 (Get FASTA)   NCBI Sequence Viewer  
  XP_054198579 (Get FASTA)   NCBI Sequence Viewer  
  XP_054198580 (Get FASTA)   NCBI Sequence Viewer  
  XP_054198581 (Get FASTA)   NCBI Sequence Viewer  
  XP_054198582 (Get FASTA)   NCBI Sequence Viewer  
  XP_054198583 (Get FASTA)   NCBI Sequence Viewer  
  XP_054198584 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAI25252 (Get FASTA)   NCBI Sequence Viewer  
  CAB92969 (Get FASTA)   NCBI Sequence Viewer  
  EAX01092 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000311837
  ENSP00000311837.5
  ENSP00000385020.1
  ENSP00000401997.1
  ENSP00000412249.1
  ENSP00000486175.1
  ENSP00000486519.1
  ENSP00000487429.1
GenBank Protein Q9NY99 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_061841   ⟸   NM_018968
- UniProtKB: Q05AH5 (UniProtKB/Swiss-Prot),   Q9NY99 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016859863   ⟸   XM_017004374
- Peptide Label: isoform X13
- Sequence:
RefSeq Acc Id: XP_016859851   ⟸   XM_017004362
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016859861   ⟸   XM_017004372
- Peptide Label: isoform X12
- Sequence:
RefSeq Acc Id: XP_016859860   ⟸   XM_017004371
- Peptide Label: isoform X12
- Sequence:
RefSeq Acc Id: XP_016859854   ⟸   XM_017004365
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016859855   ⟸   XM_017004366
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016859857   ⟸   XM_017004368
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_016859859   ⟸   XM_017004370
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: XP_016859858   ⟸   XM_017004369
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_016859850   ⟸   XM_017004361
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016859852   ⟸   XM_017004363
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016859853   ⟸   XM_017004364
- Peptide Label: isoform X4
- Sequence:
Ensembl Acc Id: ENSP00000401997   ⟸   ENST00000450962
Ensembl Acc Id: ENSP00000311837   ⟸   ENST00000308624
Ensembl Acc Id: ENSP00000412249   ⟸   ENST00000452177
Ensembl Acc Id: ENSP00000385020   ⟸   ENST00000407292
RefSeq Acc Id: XP_047300751   ⟸   XM_047444795
- Peptide Label: isoform X9
RefSeq Acc Id: XP_047300754   ⟸   XM_047444798
- Peptide Label: isoform X13
RefSeq Acc Id: XP_047300750   ⟸   XM_047444794
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054198579   ⟸   XM_054342604
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054198584   ⟸   XM_054342609
- Peptide Label: isoform X13
RefSeq Acc Id: XP_054198572   ⟸   XM_054342597
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054198580   ⟸   XM_054342605
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054198583   ⟸   XM_054342608
- Peptide Label: isoform X12
RefSeq Acc Id: XP_054198582   ⟸   XM_054342607
- Peptide Label: isoform X12
RefSeq Acc Id: XP_054198573   ⟸   XM_054342598
- Peptide Label: isoform X14
RefSeq Acc Id: XP_054198575   ⟸   XM_054342600
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054198576   ⟸   XM_054342601
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054198578   ⟸   XM_054342603
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054198581   ⟸   XM_054342606
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054198571   ⟸   XM_054342596
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054198574   ⟸   XM_054342599
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054198577   ⟸   XM_054342602
- Peptide Label: isoform X7
Protein Domains
PDZ   PH

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NY99-F1-model_v2 AlphaFold Q9NY99 1-539 view protein structure

Promoters
RGD ID:6859530
Promoter ID:EPDNEW_H2930
Type:initiation region
Name:SNTG2_1
Description:syntrophin gamma 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382950,849 - 950,909EPDNEW
RGD ID:6798213
Promoter ID:HG_KWN:31300
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour
Transcripts:OTTHUMT00000322457,   OTTHUMT00000322460,   OTTHUMT00000322787
Position:
Human AssemblyChrPosition (strand)Source
Build 3621,148,621 - 1,149,121 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:13741 AgrOrtholog
COSMIC SNTG2 COSMIC
Ensembl Genes ENSG00000172554 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000281020 UniProtKB/TrEMBL
  ENSG00000281486 UniProtKB/TrEMBL
Ensembl Transcript ENST00000308624 ENTREZGENE
  ENST00000308624.10 UniProtKB/Swiss-Prot
  ENST00000407292.1 UniProtKB/Swiss-Prot
  ENST00000450962.5 UniProtKB/TrEMBL
  ENST00000452177.5 UniProtKB/TrEMBL
  ENST00000625507.1 UniProtKB/TrEMBL
  ENST00000627224.1 UniProtKB/TrEMBL
  ENST00000627321.2 UniProtKB/TrEMBL
Gene3D-CATH 2.30.29.30 UniProtKB/TrEMBL
  2.30.42.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000172554 GTEx
  ENSG00000281020 GTEx
  ENSG00000281486 GTEx
HGNC ID HGNC:13741 ENTREZGENE
Human Proteome Map SNTG2 Human Proteome Map
InterPro PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH-like_dom_sf UniProtKB/TrEMBL
  Syntrophin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:54221 UniProtKB/Swiss-Prot
NCBI Gene 54221 ENTREZGENE
OMIM 608715 OMIM
PANTHER GAMMA-2-SYNTROPHIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10554 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PDZ UniProtKB/Swiss-Prot
  Syntrophin_4th UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37807 PharmGKB
PROSITE PDZ UniProtKB/Swiss-Prot
SMART PDZ UniProtKB/Swiss-Prot
Superfamily-SCOP PH domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF50156 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0G2JR78_HUMAN UniProtKB/TrEMBL
  A0A0G2JS85_HUMAN UniProtKB/TrEMBL
  F2Z2D2_HUMAN UniProtKB/TrEMBL
  Q05AH5 ENTREZGENE
  Q9NY99 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q05AH5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-19 SNTG2  syntrophin gamma 2  SNTG2  syntrophin, gamma 2  Symbol and/or name change 5135510 APPROVED