Canonical Allele Identifier: CA3498696
Gene: SH3TC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 448370
ClinVar RCV Id: RCV000517446 RCV000754746 RCV000790335 RCV000805465 RCV001814180 RCV003483649
dbSNP Id: rs759785462
ExAC: 5:148386608 G / A
gnomAD v2: 5-148386608-G-A
gnomAD v3: 5-149007045-G-A
gnomAD v4: 5-149007045-G-A
COSMIC: COSM294811 COSM4644646
MyVariant Identifiers: chr5:g.148386608G>A (hg19) chr5:g.149007045G>A (hg38)
PubMed: PMID:23466821 PMID:25429913
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149007045G>A , CM000667.2:g.149007045G>A GRCh38
NC_000005.9:g.148386608G>A , CM000667.1:g.148386608G>A GRCh37
NC_000005.8:g.148366801G>A NCBI36
NG_007947.2:g.61130C>T , LRG_269:g.61130C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000502274.2:c.4364C>T
ENST00000515425.6:c.3511C>T MANE Select ENSP00000423660.1:p.Arg1171Cys
ENST00000675793.1:c.*4568C>T ENSP00000502039.1:n.*4568C>T
ENST00000323829.9:c.*2899C>T ENSP00000313025.5:n.*2899C>T
ENST00000502274.1:c.97C>T ENSP00000421092.1:p.Arg33Cys
ENST00000504517.5:c.3033C>T ENSP00000421779.1:n.3033C>T
ENST00000504690.5:c.3511C>T ENSP00000425627.1:p.Arg1171Cys
ENST00000510350.1:n.67C>T
ENST00000510779.1:c.2561C>T
ENST00000512049.5:c.3490C>T ENSP00000421860.1:p.Arg1164Cys
ENST00000515229.5:n.173C>T
ENST00000515425.5:c.3511C>T ENSP00000423660.1:p.Arg1171Cys
NM_024577.3:c.3511C>T , LRG_269t1:c.3511C>T NP_078853.2:p.Arg1171Cys
NM_024577.4:c.3511C>T MANE Select NP_078853.2:p.Arg1171Cys
Search 100 bp 5'
Search 100 bp 3'