Canonical Allele Identifier: CA1028958658
Gene: SRD5A2 HGNC NCBI

Linked Data

dbSNP Id: rs1666070119
gnomAD v3: 2-31538527-C-T
gnomAD v4: 2-31538527-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31538527C>T , CM000664.2:g.31538527C>T GRCh38
NC_000002.11:g.31763597C>T , CM000664.1:g.31763597C>T GRCh37
NC_000002.10:g.31617101C>T NCBI36
NG_008365.1:g.47445G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000622030.2:c.282-4761G>A MANE Select ENSP00000477587.1:n.282-4761G>A
ENST00000622030.1:c.282-4761G>A ENSP00000477587.1:n.282-4761G>A
NM_000348.3:c.282-4761G>A NP_000339.2:n.282-4761G>A
XM_011533068.1:c.282-4761G>A XP_011531370.1:n.282-4761G>A
XM_011533069.1:c.60-4761G>A XP_011531371.1:n.60-4761G>A
XM_011533070.1:c.27-4761G>A XP_011531372.1:n.27-4761G>A
XM_011533071.1:c.27-4761G>A XP_011531373.1:n.27-4761G>A
XM_011533072.1:c.27-4761G>A XP_011531374.1:n.27-4761G>A
XM_011533069.2:c.60-4761G>A XP_011531371.1:n.60-4761G>A
XM_011533072.2:c.27-4761G>A XP_011531374.1:n.27-4761G>A
NM_000348.4:c.282-4761G>A MANE Select NP_000339.2:n.282-4761G>A