Canonical Allele Identifier: CA10607929
Gene: HSD3B2 HGNC NCBI

Linked Data

ClinVar Variation Id: 292273
ClinVar RCV Id: RCV001707618
dbSNP Id: rs9282704
gnomAD v2: 1-119965445-A-G
gnomAD v3: 1-119422822-A-G
gnomAD v4: 1-119422822-A-G
MyVariant Identifiers: chr1:g.119965445A>G (hg19) chr1:g.119422822A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119422822A>G , CM000663.2:g.119422822A>G GRCh38
NC_000001.10:g.119965445A>G , CM000663.1:g.119965445A>G GRCh37
NC_000001.9:g.119766968A>G NCBI36
NG_013349.1:g.12892A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000369416.4:c.*202A>G MANE Select ENSP00000358424.3:n.*202A>G
ENST00000369416.3:c.*202A>G ENSP00000358424.3:n.*202A>G
ENST00000543831.5:c.*202A>G ENSP00000445122.1:n.*202A>G
NM_000198.3:c.*202A>G NP_000189.1:n.*202A>G
NM_001166120.1:c.*202A>G NP_001159592.1:n.*202A>G
NM_000198.4:c.*202A>G MANE Select NP_000189.1:n.*202A>G
NM_001166120.2:c.*202A>G NP_001159592.1:n.*202A>G
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