Canonical Allele Identifier: CA361667732

Gene: SH3TC2

Linked Data

• dbSNP Id: rs1186186294
• gnomAD v3: 5-149027949-C-T
• gnomAD v4: 5-149027949-C-T
• COSMIC: COSM4779352 ; COSM4779353
• MyVariant Identifiers: chr5:g.148407512C>T (hg19) ; chr5:g.149027949C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027949C>T , CM000667.2:g.149027949C>T	GRCh38
NC_000005.9:g.148407512C>T , CM000667.1:g.148407512C>T	GRCh37
NC_000005.8:g.148387705C>T	NCBI36
NG_007947.2:g.40226G>A , LRG_269:g.40226G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.1679G>A
ENST00000515425.6:c.1783G>A MANE Select	ENSP00000423660.1:p.Ala595Thr
ENST00000675793.1:c.*1067G>A	ENSP00000502039.1:n.*1067G>A
ENST00000676056.1:c.*1293G>A	ENSP00000501827.1:n.*1293G>A
ENST00000323829.9:c.*1171G>A	ENSP00000313025.5:n.*1171G>A
ENST00000504517.5:c.1313G>A	ENSP00000421779.1:n.1313G>A
ENST00000504690.5:c.1783G>A	ENSP00000425627.1:p.Ala595Thr
ENST00000510779.1:c.833G>A
ENST00000511307.5:c.*1563G>A	ENSP00000421420.1:n.*1563G>A
ENST00000512049.5:c.1762G>A	ENSP00000421860.1:p.Ala588Thr
ENST00000513604.5:c.*1171G>A	ENSP00000423111.1:n.*1171G>A
ENST00000515425.5:c.1783G>A	ENSP00000423660.1:p.Ala595Thr
NM_024577.3:c.1783G>A , LRG_269t1:c.1783G>A	NP_078853.2:p.Ala595Thr
NM_024577.4:c.1783G>A MANE Select	NP_078853.2:p.Ala595Thr