Canonical Allele Identifier: CA1590304119

Gene: SH3TC2

Linked Data

• dbSNP Id: rs1753731303
• gnomAD v3: 5-149008658-C-T
• gnomAD v4: 5-149008658-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149008658C>T , CM000667.2:g.149008658C>T	GRCh38
NC_000005.9:g.148388221C>T , CM000667.1:g.148388221C>T	GRCh37
NC_000005.8:g.148368414C>T	NCBI36
NG_007947.2:g.59517G>A , LRG_269:g.59517G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.3374+193G>A
ENST00000515425.6:c.3478+193G>A MANE Select	ENSP00000423660.1:n.3478+193G>A
ENST00000675793.1:c.*2955G>A	ENSP00000502039.1:n.*2955G>A
ENST00000323829.9:c.*2866+193G>A	ENSP00000313025.5:n.*2866+193G>A
ENST00000504517.5:c.3008+193G>A	ENSP00000421779.1:n.3008+193G>A
ENST00000504690.5:c.3478+193G>A	ENSP00000425627.1:n.3478+193G>A
ENST00000510779.1:c.2528+193G>A
ENST00000512049.5:c.3457+193G>A	ENSP00000421860.1:n.3457+193G>A
ENST00000515229.5:n.140+193G>A
ENST00000515425.5:c.3478+193G>A	ENSP00000423660.1:n.3478+193G>A
NM_024577.3:c.3478+193G>A , LRG_269t1:c.3478+193G>A	NP_078853.2:n.3478+193G>A
NM_024577.4:c.3478+193G>A MANE Select	NP_078853.2:n.3478+193G>A