Canonical Allele Identifier: CA121925
Gene: HSD3B2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.119422246C>T
GRCh37 chr1:g.119964869C>T
gnomAD v2:
1:119964869 C / T
gnomAD v3:
1:119422246 C / T
gnomAD v4:
chr1-119422246-C-T
Joint Max Group AF 0.00006311 (NFE)
Genomes Max Group AF 0.00002847 (NFE)
Exomes Max Group AF 0.00006322 (NFE)
ClinVar RCV:
RCV001069637
RCV001275503
ClinVar Variation:
12187
dbSNP:
80358217
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119422246C>T , CM000663.2:g.119422246C>T GRCh38
NC_000001.10:g.119964869C>T , CM000663.1:g.119964869C>T GRCh37
NC_000001.9:g.119766392C>T NCBI36
NG_013349.1:g.12316C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369416.4:c.745C>T MANE Select ENSP00000358424.3:p.Arg249Ter
ENST00000369416.3:c.745C>T ENSP00000358424.3:p.Arg249Ter
ENST00000543831.5:c.745C>T ENSP00000445122.1:p.Arg249Ter
NM_000198.3:c.745C>T NP_000189.1:p.Arg249Ter
NM_001166120.1:c.745C>T NP_001159592.1:p.Arg249Ter
NM_000198.4:c.745C>T MANE Select NP_000189.1:p.Arg249Ter
NM_001166120.2:c.745C>T NP_001159592.1:p.Arg249Ter
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