Canonical Allele Identifier: CA15159714
Gene: SRD5A2 HGNC NCBI
dbSNP:
2268797
gnomAD v2:
2:31783752 C / T
gnomAD v3:
2:31558682 C / T
gnomAD v4:
chr2-31558682-C-T
Joint Max Group AF 0.57170479 (NFE)
Genomes Max Group AF 0.57170479 (NFE)
MyVariant.info:
GRCh38 chr2:g.31558682C>T
GRCh37 chr2:g.31783752C>T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31558682C>T , CM000664.2:g.31558682C>T GRCh38
NC_000002.11:g.31783752C>T , CM000664.1:g.31783752C>T GRCh37
NC_000002.10:g.31637256C>T NCBI36
NG_008365.1:g.27290G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.281+21938G>A MANE Select ENSP00000477587.1:n.281+21938G>A
ENST00000622030.1:c.281+21938G>A ENSP00000477587.1:n.281+21938G>A
NM_000348.3:c.281+21938G>A NP_000339.2:n.281+21938G>A
XM_011533068.1:c.281+21938G>A XP_011531370.1:n.281+21938G>A
XM_011533069.1:c.-171G>A XP_011531371.1:n.-171G>A
XM_011533070.1:c.27-24916G>A XP_011531372.1:n.27-24916G>A
XM_011533071.1:c.27-24916G>A XP_011531373.1:n.27-24916G>A
XM_011533072.1:c.27-24916G>A XP_011531374.1:n.27-24916G>A
XM_011533069.2:c.-171G>A XP_011531371.1:n.-171G>A
XM_011533072.2:c.27-24916G>A XP_011531374.1:n.27-24916G>A
NM_000348.4:c.281+21938G>A MANE Select NP_000339.2:n.281+21938G>A
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