Canonical Allele Identifier: CA1242214497
Gene: SRD5A2 HGNC NCBI

Linked Data

dbSNP Id: rs1666747248

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31567173G>A , CM000664.2:g.31567173G>A GRCh38
NC_000002.11:g.31792243G>A , CM000664.1:g.31792243G>A GRCh37
NC_000002.10:g.31645747G>A NCBI36
NG_008365.1:g.18799C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.281+13447C>T MANE Select ENSP00000477587.1:n.281+13447C>T
ENST00000622030.1:c.281+13447C>T ENSP00000477587.1:n.281+13447C>T
NM_000348.3:c.281+13447C>T NP_000339.2:n.281+13447C>T
XM_011533068.1:c.281+13447C>T XP_011531370.1:n.281+13447C>T
XM_011533070.1:c.27-33407C>T XP_011531372.1:n.27-33407C>T
XM_011533071.1:c.27-33407C>T XP_011531373.1:n.27-33407C>T
XM_011533072.1:c.27-33407C>T XP_011531374.1:n.27-33407C>T
XM_011533072.2:c.27-33407C>T XP_011531374.1:n.27-33407C>T
NM_000348.4:c.281+13447C>T MANE Select NP_000339.2:n.281+13447C>T