Canonical Allele Identifier: CA1006337368
Gene: HSD3B2 HGNC NCBI

Linked Data

dbSNP Id: rs1651933173
gnomAD v3: 1-119422831-A-G
gnomAD v4: 1-119422831-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119422831A>G , CM000663.2:g.119422831A>G GRCh38
NC_000001.10:g.119965454A>G , CM000663.1:g.119965454A>G GRCh37
NC_000001.9:g.119766977A>G NCBI36
NG_013349.1:g.12901A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369416.4:c.*211A>G MANE Select ENSP00000358424.3:n.*211A>G
ENST00000369416.3:c.*211A>G ENSP00000358424.3:n.*211A>G
ENST00000543831.5:c.*211A>G ENSP00000445122.1:n.*211A>G
NM_000198.3:c.*211A>G NP_000189.1:n.*211A>G
NM_001166120.1:c.*211A>G NP_001159592.1:n.*211A>G
NM_000198.4:c.*211A>G MANE Select NP_000189.1:n.*211A>G
NM_001166120.2:c.*211A>G NP_001159592.1:n.*211A>G
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