Canonical Allele Identifier: CA361664679

Gene: SH3TC2

Linked Data

• dbSNP Id: rs1400303219
• gnomAD v2: 5-148388524-C-A
• MyVariant Identifiers: chr5:g.148388524C>A (hg19) ; chr5:g.149008961C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149008961C>A , CM000667.2:g.149008961C>A	GRCh38
NC_000005.9:g.148388524C>A , CM000667.1:g.148388524C>A	GRCh37
NC_000005.8:g.148368717C>A	NCBI36
NG_007947.2:g.59214G>T , LRG_269:g.59214G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.3264G>T
ENST00000515425.6:c.3368G>T MANE Select	ENSP00000423660.1:p.Arg1123Ile
ENST00000675793.1:c.*2652G>T	ENSP00000502039.1:n.*2652G>T
ENST00000323829.9:c.*2756G>T	ENSP00000313025.5:n.*2756G>T
ENST00000504517.5:c.2898G>T	ENSP00000421779.1:n.2898G>T
ENST00000504690.5:c.3368G>T	ENSP00000425627.1:p.Arg1123Ile
ENST00000510779.1:c.2418G>T
ENST00000512049.5:c.3347G>T	ENSP00000421860.1:p.Arg1116Ile
ENST00000515229.5:n.30G>T
ENST00000515425.5:c.3368G>T	ENSP00000423660.1:p.Arg1123Ile
NM_024577.3:c.3368G>T , LRG_269t1:c.3368G>T	NP_078853.2:p.Arg1123Ile
NM_024577.4:c.3368G>T MANE Select	NP_078853.2:p.Arg1123Ile