Canonical Allele Identifier: CA979708013

Gene: HSD17B2

Linked Data

• dbSNP Id: rs1904816898
• gnomAD v3: 16-82095582-C-G
• gnomAD v4: 16-82095582-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.82095582C>G , CM000678.2:g.82095582C>G	GRCh38
NC_000016.9:g.82129187C>G , CM000678.1:g.82129187C>G	GRCh37
NC_000016.8:g.80686688C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000199936.9:c.803-2493C>G MANE Select	ENSP00000199936.4:n.803-2493C>G
ENST00000199936.8:c.803-2493C>G	ENSP00000199936.4:n.803-2493C>G
ENST00000566838.2:c.4973C>G	ENSP00000456471.1:n.4973C>G
ENST00000568090.5:c.395-2493C>G	ENSP00000456529.1:n.395-2493C>G
NM_002153.2:c.803-2493C>G	NP_002144.1:n.803-2493C>G
XR_001751898.2:n.1021-2493C>G
NM_002153.3:c.803-2493C>G MANE Select	NP_002144.1:n.803-2493C>G