Canonical Allele Identifier: CA346598150
Gene: SRD5A2 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.31529466A>C
GRCh37 chr2:g.31754536A>C
gnomAD v2:
2:31754536 A / C
gnomAD v4:
chr2-31529466-A-C
Joint Max Group AF 0.00013718 (EAS)
Exomes Max Group AF 0.0001553 (EAS)
ClinVar RCV:
RCV000581602
ClinVar Variation:
375328
dbSNP:
1057519061
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31529466A>C , CM000664.2:g.31529466A>C GRCh38
NC_000002.11:g.31754536A>C , CM000664.1:g.31754536A>C GRCh37
NC_000002.10:g.31608040A>C NCBI36
NG_008365.1:g.56506T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.548-9T>G MANE Select ENSP00000477587.1:n.548-9T>G
ENST00000622030.1:c.548-9T>G ENSP00000477587.1:n.548-9T>G
NM_000348.3:c.548-9T>G NP_000339.2:n.548-9T>G
XM_011533069.1:c.326-9T>G XP_011531371.1:n.326-9T>G
XM_011533070.1:c.293-9T>G XP_011531372.1:n.293-9T>G
XM_011533071.1:c.293-9T>G XP_011531373.1:n.293-9T>G
XM_011533072.1:c.293-9T>G XP_011531374.1:n.293-9T>G
XM_011533069.2:c.326-9T>G XP_011531371.1:n.326-9T>G
XM_011533072.2:c.293-9T>G XP_011531374.1:n.293-9T>G
NM_000348.4:c.548-9T>G MANE Select NP_000339.2:n.548-9T>G
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