Canonical Allele Identifier: CA1028962358
Community Standard Title: NM_000348.4(SRD5A2):c.698+292G>A
Gene: SRD5A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31529015C>T , CM000664.2:g.31529015C>T GRCh38
NC_000002.11:g.31754085C>T , CM000664.1:g.31754085C>T GRCh37
NC_000002.10:g.31607589C>T NCBI36
NG_008365.1:g.56957G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000348.4:c.698+292G>A MANE Select NP_000339.2:n.698+292G>A
ENST00000622030.2:c.698+292G>A MANE Select ENSP00000477587.1:n.698+292G>A
NM_000348.3:c.698+292G>A NP_000339.2:n.698+292G>A
ENST00000622030.1:c.698+292G>A ENSP00000477587.1:n.698+292G>A
XM_011533069.1:c.476+292G>A XP_011531371.1:n.476+292G>A
XM_011533069.2:c.476+292G>A XP_011531371.1:n.476+292G>A
XM_011533070.1:c.443+292G>A XP_011531372.1:n.443+292G>A
XM_011533071.1:c.443+292G>A XP_011531373.1:n.443+292G>A
XM_011533072.1:c.443+292G>A XP_011531374.1:n.443+292G>A
XM_011533072.2:c.443+292G>A XP_011531374.1:n.443+292G>A