Canonical Allele Identifier: CA919753334
Gene: HSD17B2 HGNC NCBI

Linked Data

dbSNP Id: rs1567595020

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.82095856_82095868del , CM000678.2:g.82095856_82095868del GRCh38
NC_000016.9:g.82129461_82129473del , CM000678.1:g.82129461_82129473del GRCh37
NC_000016.8:g.80686962_80686974del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000199936.9:c.803-2219_803-2207del MANE Select ENSP00000199936.4:n.803-2219_803-2207del
ENST00000199936.8:c.803-2219_803-2207del ENSP00000199936.4:n.803-2219_803-2207del
ENST00000566838.2:c.5247_5259del ENSP00000456471.1:n.5247_5259del
ENST00000568090.5:c.395-2219_395-2207del ENSP00000456529.1:n.395-2219_395-2207del
NM_002153.2:c.803-2219_803-2207del NP_002144.1:n.803-2219_803-2207del
XR_001751898.2:n.1021-2219_1021-2207del
NM_002153.3:c.803-2219_803-2207del MANE Select NP_002144.1:n.803-2219_803-2207del