Canonical Allele Identifier: CA11248075
Gene: SRD5A2 HGNC NCBI
dbSNP:
7594951
gnomAD v2:
2:31791793 C / T
gnomAD v3:
2:31566723 C / T
gnomAD v4:
chr2-31566723-C-T
Joint Max Group AF 0.14458266 (MID)
Genomes Max Group AF 0.11543231 (AFR)
MyVariant.info:
GRCh38 chr2:g.31566723C>T
GRCh37 chr2:g.31791793C>T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31566723C>T , CM000664.2:g.31566723C>T GRCh38
NC_000002.11:g.31791793C>T , CM000664.1:g.31791793C>T GRCh37
NC_000002.10:g.31645297C>T NCBI36
NG_008365.1:g.19249G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.281+13897G>A MANE Select ENSP00000477587.1:n.281+13897G>A
ENST00000622030.1:c.281+13897G>A ENSP00000477587.1:n.281+13897G>A
NM_000348.3:c.281+13897G>A NP_000339.2:n.281+13897G>A
XM_011533068.1:c.281+13897G>A XP_011531370.1:n.281+13897G>A
XM_011533070.1:c.27-32957G>A XP_011531372.1:n.27-32957G>A
XM_011533071.1:c.27-32957G>A XP_011531373.1:n.27-32957G>A
XM_011533072.1:c.27-32957G>A XP_011531374.1:n.27-32957G>A
XM_011533072.2:c.27-32957G>A XP_011531374.1:n.27-32957G>A
NM_000348.4:c.281+13897G>A MANE Select NP_000339.2:n.281+13897G>A
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