Canonical Allele Identifier: CA3499034

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 476895
• ClinVar RCV Id: RCV000552225 ; RCV000789571 ; RCV002448798
• dbSNP Id: rs200006756
• ExAC: 5:148407022 G / T
• gnomAD v2: 5-148407022-G-T
• gnomAD v3: 5-149027459-G-T
• gnomAD v4: 5-149027459-G-T
• MyVariant Identifiers: chr5:g.148407022G>T (hg19) ; chr5:g.149027459G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027459G>T , CM000667.2:g.149027459G>T	GRCh38
NC_000005.9:g.148407022G>T , CM000667.1:g.148407022G>T	GRCh37
NC_000005.8:g.148387215G>T	NCBI36
NG_007947.2:g.40716C>A , LRG_269:g.40716C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000502274.2:c.2169C>A
ENST00000515425.6:c.2273C>A MANE Select	ENSP00000423660.1:p.Ala758Asp
ENST00000675793.1:c.*1557C>A	ENSP00000502039.1:n.*1557C>A
ENST00000676056.1:c.*1783C>A	ENSP00000501827.1:n.*1783C>A
ENST00000323829.9:c.*1661C>A	ENSP00000313025.5:n.*1661C>A
ENST00000504517.5:c.1803C>A	ENSP00000421779.1:n.1803C>A
ENST00000504690.5:c.2273C>A	ENSP00000425627.1:p.Ala758Asp
ENST00000510779.1:c.1323C>A
ENST00000511307.5:c.*2053C>A	ENSP00000421420.1:n.*2053C>A
ENST00000512049.5:c.2252C>A	ENSP00000421860.1:p.Ala751Asp
ENST00000513604.5:c.*1661C>A	ENSP00000423111.1:n.*1661C>A
ENST00000515425.5:c.2273C>A	ENSP00000423660.1:p.Ala758Asp
NM_024577.3:c.2273C>A , LRG_269t1:c.2273C>A	NP_078853.2:p.Ala758Asp
NM_024577.4:c.2273C>A MANE Select	NP_078853.2:p.Ala758Asp