Canonical Allele Identifier: CA346598067

Gene: SRD5A2

Linked Data

• dbSNP Id: rs121434250
• MyVariant Identifiers: chr2:g.31754489C>A (hg19) ; chr2:g.31529419C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31529419C>A , CM000664.2:g.31529419C>A	GRCh38
NC_000002.11:g.31754489C>A , CM000664.1:g.31754489C>A	GRCh37
NC_000002.10:g.31607993C>A	NCBI36
NG_008365.1:g.56553G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.586G>T MANE Select	ENSP00000477587.1:p.Gly196Cys
ENST00000622030.1:c.586G>T	ENSP00000477587.1:p.Gly196Cys
NM_000348.3:c.586G>T	NP_000339.2:p.Gly196Cys
XM_011533069.1:c.364G>T	XP_011531371.1:p.Gly122Cys
XM_011533070.1:c.331G>T	XP_011531372.1:p.Gly111Cys
XM_011533071.1:c.331G>T	XP_011531373.1:p.Gly111Cys
XM_011533072.1:c.331G>T	XP_011531374.1:p.Gly111Cys
XM_011533069.2:c.364G>T	XP_011531371.1:p.Gly122Cys
XM_011533072.2:c.331G>T	XP_011531374.1:p.Gly111Cys
NM_000348.4:c.586G>T MANE Select	NP_000339.2:p.Gly196Cys