Canonical Allele Identifier: CA346598068

Gene: SRD5A2

Linked Data

• ClinVar Variation Id: 548153
• ClinVar RCV Id: RCV000660891
• dbSNP Id: rs121434250
• MyVariant Identifiers: chr2:g.31754489C>G (hg19) ; chr2:g.31529419C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.586G>C MANE Select	ENSP00000477587.1:p.Gly196Arg
ENST00000622030.1:c.586G>C	ENSP00000477587.1:p.Gly196Arg
NM_000348.3:c.586G>C	NP_000339.2:p.Gly196Arg
XM_011533069.1:c.364G>C	XP_011531371.1:p.Gly122Arg
XM_011533070.1:c.331G>C	XP_011531372.1:p.Gly111Arg
XM_011533071.1:c.331G>C	XP_011531373.1:p.Gly111Arg
XM_011533072.1:c.331G>C	XP_011531374.1:p.Gly111Arg
XM_011533069.2:c.364G>C	XP_011531371.1:p.Gly122Arg
XM_011533072.2:c.331G>C	XP_011531374.1:p.Gly111Arg
NM_000348.4:c.586G>C MANE Select	NP_000339.2:p.Gly196Arg