Canonical Allele Identifier: CA346598135

Gene: SRD5A2

Linked Data

• MyVariant Identifiers: chr2:g.31754522A>C (hg19) ; chr2:g.31529452A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31529452A>C , CM000664.2:g.31529452A>C	GRCh38
NC_000002.11:g.31754522A>C , CM000664.1:g.31754522A>C	GRCh37
NC_000002.10:g.31608026A>C	NCBI36
NG_008365.1:g.56520T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.553T>G MANE Select	ENSP00000477587.1:p.Leu185Val
ENST00000622030.1:c.553T>G	ENSP00000477587.1:p.Leu185Val
NM_000348.3:c.553T>G	NP_000339.2:p.Leu185Val
XM_011533069.1:c.331T>G	XP_011531371.1:p.Leu111Val
XM_011533070.1:c.298T>G	XP_011531372.1:p.Leu100Val
XM_011533071.1:c.298T>G	XP_011531373.1:p.Leu100Val
XM_011533072.1:c.298T>G	XP_011531374.1:p.Leu100Val
XM_011533069.2:c.331T>G	XP_011531371.1:p.Leu111Val
XM_011533072.2:c.298T>G	XP_011531374.1:p.Leu100Val
NM_000348.4:c.553T>G MANE Select	NP_000339.2:p.Leu185Val