Canonical Allele Identifier: CA425626946
Gene: SRD5A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.31805719C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31580649C>T , CM000664.2:g.31580649C>T GRCh38
NC_000002.11:g.31805719C>T , CM000664.1:g.31805719C>T GRCh37
NC_000002.10:g.31659223C>T NCBI36
NG_008365.1:g.5323G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.252G>A MANE Select ENSP00000477587.1:p.Leu84=
ENST00000622030.1:c.252G>A ENSP00000477587.1:p.Leu84=
NM_000348.3:c.252G>A NP_000339.2:p.Leu84=
XM_011533068.1:c.252G>A XP_011531370.1:p.Leu84=
XM_011533070.1:c.27-46883G>A XP_011531372.1:n.27-46883G>A
XM_011533071.1:c.27-46883G>A XP_011531373.1:n.27-46883G>A
XM_011533072.1:c.27-46883G>A XP_011531374.1:n.27-46883G>A
XM_011533072.2:c.27-46883G>A XP_011531374.1:n.27-46883G>A
NM_000348.4:c.252G>A MANE Select NP_000339.2:p.Leu84=