Canonical Allele Identifier: CA121929
Gene: HSD3B2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.119422620A>C
GRCh37 chr1:g.119965243A>C
gnomAD v2:
1:119965243 A / C
gnomAD v3:
1:119422620 A / C
gnomAD v4:
chr1-119422620-A-C
Joint Max Group AF 0.00000365 (SAS)
Exomes Max Group AF 0.00000385 (SAS)
ClinVar RCV:
RCV000012972
ClinVar Variation:
12189
dbSNP:
80358218
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119422620A>C , CM000663.2:g.119422620A>C GRCh38
NC_000001.10:g.119965243A>C , CM000663.1:g.119965243A>C GRCh37
NC_000001.9:g.119766766A>C NCBI36
NG_013349.1:g.12690A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369416.4:c.1119A>C MANE Select ENSP00000358424.3:p.Ter373Cys
ENST00000369416.3:c.1119A>C ENSP00000358424.3:p.Ter373Cys
ENST00000543831.5:c.1119A>C ENSP00000445122.1:p.Ter373Cys
NM_000198.3:c.1119A>C NP_000189.1:p.Ter373Cys
NM_001166120.1:c.1119A>C NP_001159592.1:p.Ter373Cys
NM_000198.4:c.1119A>C MANE Select NP_000189.1:p.Ter373Cys
NM_001166120.2:c.1119A>C NP_001159592.1:p.Ter373Cys
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