Canonical Allele Identifier: CA346598819

Gene: SRD5A2

Linked Data

• MyVariant Identifiers: chr2:g.31805721G>C (hg19) ; chr2:g.31580651G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31580651G>C , CM000664.2:g.31580651G>C	GRCh38
NC_000002.11:g.31805721G>C , CM000664.1:g.31805721G>C	GRCh37
NC_000002.10:g.31659225G>C	NCBI36
NG_008365.1:g.5321C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.250C>G MANE Select	ENSP00000477587.1:p.Leu84Val
ENST00000622030.1:c.250C>G	ENSP00000477587.1:p.Leu84Val
NM_000348.3:c.250C>G	NP_000339.2:p.Leu84Val
XM_011533068.1:c.250C>G	XP_011531370.1:p.Leu84Val
XM_011533070.1:c.27-46885C>G	XP_011531372.1:n.27-46885C>G
XM_011533071.1:c.27-46885C>G	XP_011531373.1:n.27-46885C>G
XM_011533072.1:c.27-46885C>G	XP_011531374.1:n.27-46885C>G
XM_011533072.2:c.27-46885C>G	XP_011531374.1:n.27-46885C>G
NM_000348.4:c.250C>G MANE Select	NP_000339.2:p.Leu84Val