Canonical Allele Identifier: CA425568381
Gene: SRD5A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.31758767G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31533697G>A , CM000664.2:g.31533697G>A GRCh38
NC_000002.11:g.31758767G>A , CM000664.1:g.31758767G>A GRCh37
NC_000002.10:g.31612271G>A NCBI36
NG_008365.1:g.52275C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.351C>T MANE Select ENSP00000477587.1:p.Ala117=
ENST00000622030.1:c.351C>T ENSP00000477587.1:p.Ala117=
NM_000348.3:c.351C>T NP_000339.2:p.Ala117=
XM_011533068.1:c.351C>T XP_011531370.1:p.Ala117=
XM_011533069.1:c.129C>T XP_011531371.1:p.Ala43=
XM_011533070.1:c.96C>T XP_011531372.1:p.Ala32=
XM_011533071.1:c.96C>T XP_011531373.1:p.Ala32=
XM_011533072.1:c.96C>T XP_011531374.1:p.Ala32=
XM_011533069.2:c.129C>T XP_011531371.1:p.Ala43=
XM_011533072.2:c.96C>T XP_011531374.1:p.Ala32=
NM_000348.4:c.351C>T MANE Select NP_000339.2:p.Ala117=