Canonical Allele Identifier: CA224877
Gene: SRD5A2 HGNC NCBI
ClinVar RCV:
RCV000083635
RCV000359892
ClinVar Variation:
97386
COSMIC:
COSN19696669
dbSNP:
632148
gnomAD v2:
2:31806031 C / G
gnomAD v3:
2:31580962 C / G
gnomAD v4:
chr2-31580962-C-G
Joint Max Group AF 0.70347269 (MID)
Genomes Max Group AF 0.69442198 (AFR)
Exomes Max Group AF 0.70345558 (MID)
MyVariant.info:
GRCh38 chr2:g.31580962C>G
GRCh37 chr2:g.31806031C>G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31580962C>G , CM000664.2:g.31580962C>G GRCh38
NC_000002.11:g.31806031C>G , CM000664.1:g.31806031C>G GRCh37
NC_000002.10:g.31659535C>G NCBI36
NG_008365.1:g.5010G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.1:c.-62G>C ENSP00000477587.1:n.-62G>C
NM_000348.3:c.-62G>C NP_000339.2:n.-62G>C
XM_011533068.1:c.-62G>C XP_011531370.1:n.-62G>C
XM_011533070.1:c.27-47196G>C XP_011531372.1:n.27-47196G>C
XM_011533071.1:c.27-47196G>C XP_011531373.1:n.27-47196G>C
XM_011533072.1:c.27-47196G>C XP_011531374.1:n.27-47196G>C
XM_011533072.2:c.27-47196G>C XP_011531374.1:n.27-47196G>C
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