Canonical Allele Identifier: CA1192294252
Gene: HSD3B2 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000369416.4:c.143-662T>G MANE Select ENSP00000358424.3:n.143-662T>G
ENST00000369416.3:c.143-662T>G ENSP00000358424.3:n.143-662T>G
ENST00000433745.5:c.143-662T>G ENSP00000388292.1:n.143-662T>G
ENST00000443865.2:n.403-662T>G
ENST00000448448.2:n.87-662T>G
ENST00000471656.5:n.284-662T>G
ENST00000543831.5:c.143-662T>G ENSP00000445122.1:n.143-662T>G
NM_000198.3:c.143-662T>G NP_000189.1:n.143-662T>G
NM_001166120.1:c.143-662T>G NP_001159592.1:n.143-662T>G
NM_000198.4:c.143-662T>G MANE Select NP_000189.1:n.143-662T>G
NM_001166120.2:c.143-662T>G NP_001159592.1:n.143-662T>G