Canonical Allele Identifier: CA2647378852
Gene: HSD3B2 HGNC NCBI

Linked Data

gnomAD v4: 1-119422818-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119422818A>G , CM000663.2:g.119422818A>G GRCh38
NC_000001.10:g.119965441A>G , CM000663.1:g.119965441A>G GRCh37
NC_000001.9:g.119766964A>G NCBI36
NG_013349.1:g.12888A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369416.4:c.*198A>G MANE Select ENSP00000358424.3:n.*198A>G
ENST00000369416.3:c.*198A>G ENSP00000358424.3:n.*198A>G
ENST00000543831.5:c.*198A>G ENSP00000445122.1:n.*198A>G
NM_000198.3:c.*198A>G NP_000189.1:n.*198A>G
NM_001166120.1:c.*198A>G NP_001159592.1:n.*198A>G
NM_000198.4:c.*198A>G MANE Select NP_000189.1:n.*198A>G
NM_001166120.2:c.*198A>G NP_001159592.1:n.*198A>G
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