Canonical Allele Identifier: CA419994122
Gene: HSD3B2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1936126
ClinVar RCV Id: RCV002636256
dbSNP Id: rs1349579965
gnomAD v2: 1-119964442-A-G
gnomAD v3: 1-119421819-A-G
gnomAD v4: 1-119421819-A-G
MyVariant Identifiers: chr1:g.119964442A>G (hg19) chr1:g.119421819A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119421819A>G , CM000663.2:g.119421819A>G GRCh38
NC_000001.10:g.119964442A>G , CM000663.1:g.119964442A>G GRCh37
NC_000001.9:g.119765965A>G NCBI36
NG_013349.1:g.11889A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369416.4:c.318A>G MANE Select ENSP00000358424.3:p.Leu106=
ENST00000369416.3:c.318A>G ENSP00000358424.3:p.Leu106=
ENST00000433745.5:c.318A>G ENSP00000388292.1:p.Leu106=
ENST00000448448.2:n.262A>G
ENST00000543831.5:c.318A>G ENSP00000445122.1:p.Leu106=
NM_000198.3:c.318A>G NP_000189.1:p.Leu106=
NM_001166120.1:c.318A>G NP_001159592.1:p.Leu106=
NM_000198.4:c.318A>G MANE Select NP_000189.1:p.Leu106=
NM_001166120.2:c.318A>G NP_001159592.1:p.Leu106=
Search 100 bp 5'
Search 100 bp 3'