Canonical Allele Identifier: CA1028969349
Gene: SRD5A2 HGNC NCBI

Linked Data

dbSNP Id: rs551122446
gnomAD v3: 2-31568287-G-C
gnomAD v4: 2-31568287-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31568287G>C , CM000664.2:g.31568287G>C GRCh38
NC_000002.11:g.31793357G>C , CM000664.1:g.31793357G>C GRCh37
NC_000002.10:g.31646861G>C NCBI36
NG_008365.1:g.17685C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000622030.2:c.281+12333C>G MANE Select ENSP00000477587.1:n.281+12333C>G
ENST00000622030.1:c.281+12333C>G ENSP00000477587.1:n.281+12333C>G
NM_000348.3:c.281+12333C>G NP_000339.2:n.281+12333C>G
XM_011533068.1:c.281+12333C>G XP_011531370.1:n.281+12333C>G
XM_011533070.1:c.27-34521C>G XP_011531372.1:n.27-34521C>G
XM_011533071.1:c.27-34521C>G XP_011531373.1:n.27-34521C>G
XM_011533072.1:c.27-34521C>G XP_011531374.1:n.27-34521C>G
XM_011533072.2:c.27-34521C>G XP_011531374.1:n.27-34521C>G
NM_000348.4:c.281+12333C>G MANE Select NP_000339.2:n.281+12333C>G