Canonical Allele Identifier: CA1192292882
Gene: HSD3B2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119422243G= , CM000663.2:g.119422243G= GRCh38
NC_000001.10:g.119964866G= , CM000663.1:g.119964866G= GRCh37
NC_000001.9:g.119766389G= NCBI36
NG_013349.1:g.12313G=

Transcript Alleles

HGVS Amino-acid change
ENST00000369416.4:c.742G= MANE Select ENSP00000358424.3:p.Val248=
ENST00000369416.3:c.742G= ENSP00000358424.3:p.Val248=
ENST00000543831.5:c.742G= ENSP00000445122.1:p.Val248=
NM_000198.3:c.742G= NP_000189.1:p.Val248=
NM_001166120.1:c.742G= NP_001159592.1:p.Val248=
NM_000198.4:c.742G= MANE Select NP_000189.1:p.Val248=
NM_001166120.2:c.742G= NP_001159592.1:p.Val248=