Canonical Allele Identifier: CA724732193

Gene: HSD17B2

Linked Data

• dbSNP Id: rs1380782828
• MyVariant Identifiers: chr16:g.82129274_82129275insAACT (hg19) ; chr16:g.82095669_82095670insAACT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.82095670_82095673dup , CM000678.2:g.82095670_82095673dup	GRCh38
NC_000016.9:g.82129275_82129278dup , CM000678.1:g.82129275_82129278dup	GRCh37
NC_000016.8:g.80686776_80686779dup	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000199936.9:c.803-2405_803-2402dup MANE Select	ENSP00000199936.4:n.803-2405_803-2402dup
ENST00000199936.8:c.803-2405_803-2402dup	ENSP00000199936.4:n.803-2405_803-2402dup
ENST00000566838.2:c.5061_5064dup	ENSP00000456471.1:n.5061_5064dup
ENST00000568090.5:c.395-2405_395-2402dup	ENSP00000456529.1:n.395-2405_395-2402dup
NM_002153.2:c.803-2405_803-2402dup	NP_002144.1:n.803-2405_803-2402dup
XR_001751898.2:n.1021-2405_1021-2402dup
NM_002153.3:c.803-2405_803-2402dup MANE Select	NP_002144.1:n.803-2405_803-2402dup