Canonical Allele Identifier: CA341398212

Gene: HSD3B2

Linked Data

• MyVariant Identifiers: chr1:g.119964876A>G (hg19) ; chr1:g.119422253A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119422253A>G , CM000663.2:g.119422253A>G	GRCh38
NC_000001.10:g.119964876A>G , CM000663.1:g.119964876A>G	GRCh37
NC_000001.9:g.119766399A>G	NCBI36
NG_013349.1:g.12323A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369416.4:c.752A>G MANE Select	ENSP00000358424.3:p.Gln251Arg
ENST00000369416.3:c.752A>G	ENSP00000358424.3:p.Gln251Arg
ENST00000543831.5:c.752A>G	ENSP00000445122.1:p.Gln251Arg
NM_000198.3:c.752A>G	NP_000189.1:p.Gln251Arg
NM_001166120.1:c.752A>G	NP_001159592.1:p.Gln251Arg
NM_000198.4:c.752A>G MANE Select	NP_000189.1:p.Gln251Arg
NM_001166120.2:c.752A>G	NP_001159592.1:p.Gln251Arg