Canonical Allele Identifier: CA531720482
Gene: SRD5A2 HGNC NCBI

Linked Data

dbSNP Id: rs1447104652
gnomAD v2: 2-31792631-TC-T
gnomAD v3: 2-31567561-TC-T
gnomAD v4: 2-31567561-TC-T
MyVariant Identifiers: chr2:g.31792632del (hg19) chr2:g.31567562del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31567562del , CM000664.2:g.31567562del GRCh38
NC_000002.11:g.31792632del , CM000664.1:g.31792632del GRCh37
NC_000002.10:g.31646136del NCBI36
NG_008365.1:g.18410del

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.281+13058del MANE Select ENSP00000477587.1:n.281+13058del
ENST00000622030.1:c.281+13058del ENSP00000477587.1:n.281+13058del
NM_000348.3:c.281+13058del NP_000339.2:n.281+13058del
XM_011533068.1:c.281+13058del XP_011531370.1:n.281+13058del
XM_011533070.1:c.27-33796del XP_011531372.1:n.27-33796del
XM_011533071.1:c.27-33796del XP_011531373.1:n.27-33796del
XM_011533072.1:c.27-33796del XP_011531374.1:n.27-33796del
XM_011533072.2:c.27-33796del XP_011531374.1:n.27-33796del
NM_000348.4:c.281+13058del MANE Select NP_000339.2:n.281+13058del
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Search 100 bp 3'