Canonical Allele Identifier: CA285228079
Gene: HSD17B2 HGNC NCBI

Linked Data

dbSNP Id: rs554253786
gnomAD v3: 16-82095560-G-C
gnomAD v4: 16-82095560-G-C
MyVariant Identifiers: chr16:g.82129165G>C (hg19) chr16:g.82095560G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.82095560G>C , CM000678.2:g.82095560G>C GRCh38
NC_000016.9:g.82129165G>C , CM000678.1:g.82129165G>C GRCh37
NC_000016.8:g.80686666G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000199936.9:c.803-2515G>C MANE Select ENSP00000199936.4:n.803-2515G>C
ENST00000199936.8:c.803-2515G>C ENSP00000199936.4:n.803-2515G>C
ENST00000566838.2:c.4951G>C ENSP00000456471.1:n.4951G>C
ENST00000568090.5:c.395-2515G>C ENSP00000456529.1:n.395-2515G>C
NM_002153.2:c.803-2515G>C NP_002144.1:n.803-2515G>C
XR_001751898.2:n.1021-2515G>C
NM_002153.3:c.803-2515G>C MANE Select NP_002144.1:n.803-2515G>C
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