Canonical Allele Identifier: CA2634539028
Gene: HSD17B2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.82095584A>C , CM000678.2:g.82095584A>C GRCh38
NC_000016.9:g.82129189A>C , CM000678.1:g.82129189A>C GRCh37
NC_000016.8:g.80686690A>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000199936.9:c.803-2491A>C MANE Select ENSP00000199936.4:n.803-2491A>C
ENST00000199936.8:c.803-2491A>C ENSP00000199936.4:n.803-2491A>C
ENST00000566838.2:c.4975A>C ENSP00000456471.1:n.4975A>C
ENST00000568090.5:c.395-2491A>C ENSP00000456529.1:n.395-2491A>C
NM_002153.2:c.803-2491A>C NP_002144.1:n.803-2491A>C
XR_001751898.2:n.1021-2491A>C
NM_002153.3:c.803-2491A>C MANE Select NP_002144.1:n.803-2491A>C