Canonical Allele Identifier: CA767758554
Community Standard Title: NM_000348.4(SRD5A2):c.698+278G>C
Gene: SRD5A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31529029C>G , CM000664.2:g.31529029C>G GRCh38
NC_000002.11:g.31754099C>G , CM000664.1:g.31754099C>G GRCh37
NC_000002.10:g.31607603C>G NCBI36
NG_008365.1:g.56943G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000348.4:c.698+278G>C MANE Select NP_000339.2:n.698+278G>C
ENST00000622030.2:c.698+278G>C MANE Select ENSP00000477587.1:n.698+278G>C
NM_000348.3:c.698+278G>C NP_000339.2:n.698+278G>C
ENST00000622030.1:c.698+278G>C ENSP00000477587.1:n.698+278G>C
XM_011533069.1:c.476+278G>C XP_011531371.1:n.476+278G>C
XM_011533069.2:c.476+278G>C XP_011531371.1:n.476+278G>C
XM_011533070.1:c.443+278G>C XP_011531372.1:n.443+278G>C
XM_011533071.1:c.443+278G>C XP_011531373.1:n.443+278G>C
XM_011533072.1:c.443+278G>C XP_011531374.1:n.443+278G>C
XM_011533072.2:c.443+278G>C XP_011531374.1:n.443+278G>C