Canonical Allele Identifier: CA2595152794
Community Standard Title: NM_000348.4(SRD5A2):c.698+288A>C
Gene: SRD5A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31529019T>G , CM000664.2:g.31529019T>G GRCh38
NC_000002.11:g.31754089T>G , CM000664.1:g.31754089T>G GRCh37
NC_000002.10:g.31607593T>G NCBI36
NG_008365.1:g.56953A>C

Transcript Alleles

HGVS Amino-acid Change
NM_000348.4:c.698+288A>C MANE Select NP_000339.2:n.698+288A>C
ENST00000622030.2:c.698+288A>C MANE Select ENSP00000477587.1:n.698+288A>C
NM_000348.3:c.698+288A>C NP_000339.2:n.698+288A>C
ENST00000622030.1:c.698+288A>C ENSP00000477587.1:n.698+288A>C
XM_011533069.1:c.476+288A>C XP_011531371.1:n.476+288A>C
XM_011533069.2:c.476+288A>C XP_011531371.1:n.476+288A>C
XM_011533070.1:c.443+288A>C XP_011531372.1:n.443+288A>C
XM_011533071.1:c.443+288A>C XP_011531373.1:n.443+288A>C
XM_011533072.1:c.443+288A>C XP_011531374.1:n.443+288A>C
XM_011533072.2:c.443+288A>C XP_011531374.1:n.443+288A>C