Canonical Allele Identifier: CA10814534
Gene: HSD3B2 HGNC NCBI
COSMIC:
COSN6504934 (not active)
MyVariant.info:
GRCh38 chr1:g.119418756T>A
GRCh37 chr1:g.119961379T>A
gnomAD v2:
1:119961379 T / A
gnomAD v3:
1:119418756 T / A
gnomAD v4:
chr1-119418756-T-A
Joint Max Group AF 0.73790942 (AFR)
Genomes Max Group AF 0.73790942 (AFR)
dbSNP:
2854964
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119418756T>A , CM000663.2:g.119418756T>A GRCh38
NC_000001.10:g.119961379T>A , CM000663.1:g.119961379T>A GRCh37
NC_000001.9:g.119762902T>A NCBI36
NG_013349.1:g.8826T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369416.4:c.143-662T>A MANE Select ENSP00000358424.3:n.143-662T>A
ENST00000369416.3:c.143-662T>A ENSP00000358424.3:n.143-662T>A
ENST00000433745.5:c.143-662T>A ENSP00000388292.1:n.143-662T>A
ENST00000443865.2:n.403-662T>A
ENST00000448448.2:n.87-662T>A
ENST00000471656.5:n.284-662T>A
ENST00000543831.5:c.143-662T>A ENSP00000445122.1:n.143-662T>A
NM_000198.3:c.143-662T>A NP_000189.1:n.143-662T>A
NM_001166120.1:c.143-662T>A NP_001159592.1:n.143-662T>A
NM_000198.4:c.143-662T>A MANE Select NP_000189.1:n.143-662T>A
NM_001166120.2:c.143-662T>A NP_001159592.1:n.143-662T>A
Search 100 bp 5'
Search 100 bp 3'