Canonical Allele Identifier: CA425567503
Gene: SRD5A2 HGNC NCBI

Linked Data

gnomAD v4: 2-31531375-T-A
MyVariant Identifiers: chr2:g.31756445T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31531375T>A , CM000664.2:g.31531375T>A GRCh38
NC_000002.11:g.31756445T>A , CM000664.1:g.31756445T>A GRCh37
NC_000002.10:g.31609949T>A NCBI36
NG_008365.1:g.54597A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.543A>T MANE Select ENSP00000477587.1:p.Pro181=
ENST00000622030.1:c.543A>T ENSP00000477587.1:p.Pro181=
NM_000348.3:c.543A>T NP_000339.2:p.Pro181=
XM_011533069.1:c.321A>T XP_011531371.1:p.Pro107=
XM_011533070.1:c.288A>T XP_011531372.1:p.Pro96=
XM_011533071.1:c.288A>T XP_011531373.1:p.Pro96=
XM_011533072.1:c.288A>T XP_011531374.1:p.Pro96=
XM_011533069.2:c.321A>T XP_011531371.1:p.Pro107=
XM_011533072.2:c.288A>T XP_011531374.1:p.Pro96=
NM_000348.4:c.543A>T MANE Select NP_000339.2:p.Pro181=