Canonical Allele Identifier: CA121931
Gene: HSD3B2 HGNC NCBI
COSMIC:
COSM4807356 (not active)
MyVariant.info:
GRCh38 chr1:g.119421925G>A
GRCh37 chr1:g.119964548G>A
Revel Score:
ENST00000543831 0.833
ENST00000433745 0.833
ENST00000369416 (MANE Select) 0.833
gnomAD v2:
1:119964548 G / A
gnomAD v3:
1:119421925 G / A
gnomAD v4:
chr1-119421925-G-A
Joint Max Group AF 0.0000103 (NFE)
Exomes Max Group AF 0.00001012 (NFE)
ClinVar RCV:
RCV000012973
RCV001233258
ClinVar Variation:
12190
dbSNP:
80358219
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119421925G>A , CM000663.2:g.119421925G>A GRCh38
NC_000001.10:g.119964548G>A , CM000663.1:g.119964548G>A GRCh37
NC_000001.9:g.119766071G>A NCBI36
NG_013349.1:g.11995G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369416.4:c.424G>A MANE Select ENSP00000358424.3:p.Glu142Lys
ENST00000369416.3:c.424G>A ENSP00000358424.3:p.Glu142Lys
ENST00000433745.5:c.424G>A ENSP00000388292.1:p.Glu142Lys
ENST00000448448.2:n.368G>A
ENST00000543831.5:c.424G>A ENSP00000445122.1:p.Glu142Lys
NM_000198.3:c.424G>A NP_000189.1:p.Glu142Lys
NM_001166120.1:c.424G>A NP_001159592.1:p.Glu142Lys
NM_000198.4:c.424G>A MANE Select NP_000189.1:p.Glu142Lys
NM_001166120.2:c.424G>A NP_001159592.1:p.Glu142Lys
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