Canonical Allele Identifier: CA346598824

Gene: SRD5A2

Linked Data

• MyVariant Identifiers: chr2:g.31805724G>C (hg19) ; chr2:g.31580654G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31580654G>C , CM000664.2:g.31580654G>C	GRCh38
NC_000002.11:g.31805724G>C , CM000664.1:g.31805724G>C	GRCh37
NC_000002.10:g.31659228G>C	NCBI36
NG_008365.1:g.5318C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.247C>G MANE Select	ENSP00000477587.1:p.Leu83Val
ENST00000622030.1:c.247C>G	ENSP00000477587.1:p.Leu83Val
NM_000348.3:c.247C>G	NP_000339.2:p.Leu83Val
XM_011533068.1:c.247C>G	XP_011531370.1:p.Leu83Val
XM_011533070.1:c.27-46888C>G	XP_011531372.1:n.27-46888C>G
XM_011533071.1:c.27-46888C>G	XP_011531373.1:n.27-46888C>G
XM_011533072.1:c.27-46888C>G	XP_011531374.1:n.27-46888C>G
XM_011533072.2:c.27-46888C>G	XP_011531374.1:n.27-46888C>G
NM_000348.4:c.247C>G MANE Select	NP_000339.2:p.Leu83Val