Canonical Allele Identifier: CA339988

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 2481
• ClinVar RCV Id: RCV000002585 ; RCV001223054 ; RCV001310527
• dbSNP Id: rs80338932
• ExAC: 5:148406466 A / C
• gnomAD v2: 5-148406466-A-C
• gnomAD v3: 5-149026903-A-C
• gnomAD v4: 5-149026903-A-C
• MyVariant Identifiers: chr5:g.148406466A>C (hg19) ; chr5:g.149026903A>C (hg38)
• PubMed: PMID:14574644 ; PMID:20301514

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149026903A>C , CM000667.2:g.149026903A>C	GRCh38
NC_000005.9:g.148406466A>C , CM000667.1:g.148406466A>C	GRCh37
NC_000005.8:g.148386659A>C	NCBI36
NG_007947.2:g.41272T>G , LRG_269:g.41272T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.2725T>G
ENST00000515425.6:c.2829T>G MANE Select	ENSP00000423660.1:p.Tyr943Ter
ENST00000675793.1:c.*2113T>G	ENSP00000502039.1:n.*2113T>G
ENST00000676056.1:c.*2339T>G	ENSP00000501827.1:n.*2339T>G
ENST00000323829.9:c.*2217T>G	ENSP00000313025.5:n.*2217T>G
ENST00000504517.5:c.2359T>G	ENSP00000421779.1:n.2359T>G
ENST00000504690.5:c.2829T>G	ENSP00000425627.1:p.Tyr943Ter
ENST00000510779.1:c.1879T>G
ENST00000511307.5:c.*2609T>G	ENSP00000421420.1:n.*2609T>G
ENST00000512049.5:c.2808T>G	ENSP00000421860.1:p.Tyr936Ter
ENST00000513604.5:c.*2217T>G	ENSP00000423111.1:n.*2217T>G
ENST00000515425.5:c.2829T>G	ENSP00000423660.1:p.Tyr943Ter
NM_024577.3:c.2829T>G , LRG_269t1:c.2829T>G	NP_078853.2:p.Tyr943Ter
NM_024577.4:c.2829T>G MANE Select	NP_078853.2:p.Tyr943Ter