Canonical Allele Identifier: CA1242197211
Community Standard Title: NM_000348.4(SRD5A2):c.698+299C=
Gene: SRD5A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31529008G= , CM000664.2:g.31529008G= GRCh38
NC_000002.11:g.31754078G= , CM000664.1:g.31754078G= GRCh37
NC_000002.10:g.31607582G= NCBI36
NG_008365.1:g.56964C=

Transcript Alleles

HGVS Amino-acid Change
NM_000348.4:c.698+299C= MANE Select NP_000339.2:n.698+299C=
ENST00000622030.2:c.698+299C= MANE Select ENSP00000477587.1:n.698+299C=
NM_000348.3:c.698+299C= NP_000339.2:n.698+299C=
ENST00000622030.1:c.698+299C= ENSP00000477587.1:n.698+299C=
XM_011533069.1:c.476+299C= XP_011531371.1:n.476+299C=
XM_011533069.2:c.476+299C= XP_011531371.1:n.476+299C=
XM_011533070.1:c.443+299C= XP_011531372.1:n.443+299C=
XM_011533071.1:c.443+299C= XP_011531373.1:n.443+299C=
XM_011533072.1:c.443+299C= XP_011531374.1:n.443+299C=
XM_011533072.2:c.443+299C= XP_011531374.1:n.443+299C=