Canonical Allele Identifier: CA270944

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 157532
• ClinVar RCV Id: RCV000144878 ; RCV000403900 ; RCV000465654 ; RCV000488069 ; RCV001094974 ; RCV002453463
• dbSNP Id: rs142451273
• ExAC: 5:148386569 T / C
• gnomAD v2: 5-148386569-T-C
• gnomAD v3: 5-149007006-T-C
• gnomAD v4: 5-149007006-T-C
• MyVariant Identifiers: chr5:g.148386569T>C (hg19) ; chr5:g.149007006T>C (hg38)
• PubMed: PMID:4306395 ; PMID:25025039

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149007006T>C , CM000667.2:g.149007006T>C	GRCh38
NC_000005.9:g.148386569T>C , CM000667.1:g.148386569T>C	GRCh37
NC_000005.8:g.148366762T>C	NCBI36
NG_007947.2:g.61169A>G , LRG_269:g.61169A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.4403A>G
ENST00000515425.6:c.3550A>G MANE Select	ENSP00000423660.1:p.Met1184Val
ENST00000675793.1:c.*4607A>G	ENSP00000502039.1:n.*4607A>G
ENST00000323829.9:c.*2938A>G	ENSP00000313025.5:n.*2938A>G
ENST00000502274.1:c.136A>G	ENSP00000421092.1:p.Met46Val
ENST00000504517.5:c.3072A>G	ENSP00000421779.1:n.3072A>G
ENST00000504690.5:c.3550A>G	ENSP00000425627.1:p.Met1184Val
ENST00000510350.1:n.106A>G
ENST00000510779.1:c.2600A>G
ENST00000512049.5:c.3529A>G	ENSP00000421860.1:p.Met1177Val
ENST00000515229.5:n.212A>G
ENST00000515425.5:c.3550A>G	ENSP00000423660.1:p.Met1184Val
NM_024577.3:c.3550A>G , LRG_269t1:c.3550A>G	NP_078853.2:p.Met1184Val
NM_024577.4:c.3550A>G MANE Select	NP_078853.2:p.Met1184Val