Canonical Allele Identifier: CA2647379092
Gene: HSD3B2 HGNC NCBI

Linked Data

gnomAD v4: 1-119422975-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119422975T>C , CM000663.2:g.119422975T>C GRCh38
NC_000001.10:g.119965598T>C , CM000663.1:g.119965598T>C GRCh37
NC_000001.9:g.119767121T>C NCBI36
NG_013349.1:g.13045T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369416.4:c.*355T>C MANE Select ENSP00000358424.3:n.*355T>C
ENST00000369416.3:c.*355T>C ENSP00000358424.3:n.*355T>C
ENST00000543831.5:c.*355T>C ENSP00000445122.1:n.*355T>C
NM_000198.3:c.*355T>C NP_000189.1:n.*355T>C
NM_001166120.1:c.*355T>C NP_001159592.1:n.*355T>C
NM_000198.4:c.*355T>C MANE Select NP_000189.1:n.*355T>C
NM_001166120.2:c.*355T>C NP_001159592.1:n.*355T>C
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