Canonical Allele Identifier: CA30212703
Gene: HSD3B2 HGNC NCBI

Linked Data

dbSNP Id: rs186430448
gnomAD v2: 1-119965450-C-T
gnomAD v3: 1-119422827-C-T
gnomAD v4: 1-119422827-C-T
MyVariant Identifiers: chr1:g.119965450C>T (hg19) chr1:g.119422827C>T (hg38)
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Genomic Alleles

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

Transcript Alleles

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