Canonical Allele Identifier: CA979708026
Gene: HSD17B2 HGNC NCBI

Linked Data

dbSNP Id: rs1904818608
gnomAD v3: 16-82095665-G-A
gnomAD v4: 16-82095665-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.82095665G>A , CM000678.2:g.82095665G>A GRCh38
NC_000016.9:g.82129270G>A , CM000678.1:g.82129270G>A GRCh37
NC_000016.8:g.80686771G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000199936.9:c.803-2410G>A MANE Select ENSP00000199936.4:n.803-2410G>A
ENST00000199936.8:c.803-2410G>A ENSP00000199936.4:n.803-2410G>A
ENST00000566838.2:c.5056G>A ENSP00000456471.1:n.5056G>A
ENST00000568090.5:c.395-2410G>A ENSP00000456529.1:n.395-2410G>A
NM_002153.2:c.803-2410G>A NP_002144.1:n.803-2410G>A
XR_001751898.2:n.1021-2410G>A
NM_002153.3:c.803-2410G>A MANE Select NP_002144.1:n.803-2410G>A
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