Canonical Allele Identifier: CA30212683
Gene: HSD3B2 HGNC NCBI

Linked Data

dbSNP Id: rs186430448
gnomAD v3: 1-119422827-C-A
gnomAD v4: 1-119422827-C-A
MyVariant Identifiers: chr1:g.119965450C>A (hg19) chr1:g.119422827C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119422827C>A , CM000663.2:g.119422827C>A GRCh38
NC_000001.10:g.119965450C>A , CM000663.1:g.119965450C>A GRCh37
NC_000001.9:g.119766973C>A NCBI36
NG_013349.1:g.12897C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000369416.4:c.*207C>A MANE Select ENSP00000358424.3:n.*207C>A
ENST00000369416.3:c.*207C>A ENSP00000358424.3:n.*207C>A
ENST00000543831.5:c.*207C>A ENSP00000445122.1:n.*207C>A
NM_000198.3:c.*207C>A NP_000189.1:n.*207C>A
NM_001166120.1:c.*207C>A NP_001159592.1:n.*207C>A
NM_000198.4:c.*207C>A MANE Select NP_000189.1:n.*207C>A
NM_001166120.2:c.*207C>A NP_001159592.1:n.*207C>A
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