Canonical Allele Identifier: CA2599553676
Gene: HSD17B2 HGNC NCBI

Linked Data

dbSNP Id: rs2142370136
gnomAD v3: 16-82095684-T-C
gnomAD v4: 16-82095684-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.82095684T>C , CM000678.2:g.82095684T>C GRCh38
NC_000016.9:g.82129289T>C , CM000678.1:g.82129289T>C GRCh37
NC_000016.8:g.80686790T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000199936.9:c.803-2391T>C MANE Select ENSP00000199936.4:n.803-2391T>C
ENST00000199936.8:c.803-2391T>C ENSP00000199936.4:n.803-2391T>C
ENST00000566838.2:c.5075T>C ENSP00000456471.1:n.5075T>C
ENST00000568090.5:c.395-2391T>C ENSP00000456529.1:n.395-2391T>C
NM_002153.2:c.803-2391T>C NP_002144.1:n.803-2391T>C
XR_001751898.2:n.1021-2391T>C
NM_002153.3:c.803-2391T>C MANE Select NP_002144.1:n.803-2391T>C
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