Canonical Allele Identifier: CA361665229

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 1909339
• ClinVar RCV Id: RCV002587356
• dbSNP Id: rs1223935059
• gnomAD v2: 5-148406223-C-T
• gnomAD v3: 5-149026660-C-T
• gnomAD v4: 5-149026660-C-T
• MyVariant Identifiers: chr5:g.148406223C>T (hg19) ; chr5:g.149026660C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149026660C>T , CM000667.2:g.149026660C>T	GRCh38
NC_000005.9:g.148406223C>T , CM000667.1:g.148406223C>T	GRCh37
NC_000005.8:g.148386416C>T	NCBI36
NG_007947.2:g.41515G>A , LRG_269:g.41515G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.2861G>A
ENST00000515425.6:c.2965G>A MANE Select	ENSP00000423660.1:p.Ala989Thr
ENST00000675793.1:c.*2249G>A	ENSP00000502039.1:n.*2249G>A
ENST00000676056.1:c.*2475G>A	ENSP00000501827.1:n.*2475G>A
ENST00000323829.9:c.*2353G>A	ENSP00000313025.5:n.*2353G>A
ENST00000504517.5:c.2495G>A	ENSP00000421779.1:n.2495G>A
ENST00000504690.5:c.2965G>A	ENSP00000425627.1:p.Ala989Thr
ENST00000510779.1:c.2015G>A
ENST00000511307.5:c.*2852G>A	ENSP00000421420.1:n.*2852G>A
ENST00000512049.5:c.2944G>A	ENSP00000421860.1:p.Ala982Thr
ENST00000513604.5:c.*2460G>A	ENSP00000423111.1:n.*2460G>A
ENST00000515425.5:c.2965G>A	ENSP00000423660.1:p.Ala989Thr
NM_024577.3:c.2965G>A , LRG_269t1:c.2965G>A	NP_078853.2:p.Ala989Thr
NM_024577.4:c.2965G>A MANE Select	NP_078853.2:p.Ala989Thr