Canonical Allele Identifier: CA623784172

Gene: HSD17B2

Linked Data

• dbSNP Id: rs1404350397
• gnomAD v2: 16-82129353-T-C
• gnomAD v3: 16-82095748-T-C
• gnomAD v4: 16-82095748-T-C
• MyVariant Identifiers: chr16:g.82129353T>C (hg19) ; chr16:g.82095748T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.82095748T>C , CM000678.2:g.82095748T>C	GRCh38
NC_000016.9:g.82129353T>C , CM000678.1:g.82129353T>C	GRCh37
NC_000016.8:g.80686854T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000199936.9:c.803-2327T>C MANE Select	ENSP00000199936.4:n.803-2327T>C
ENST00000199936.8:c.803-2327T>C	ENSP00000199936.4:n.803-2327T>C
ENST00000566838.2:c.5139T>C	ENSP00000456471.1:n.5139T>C
ENST00000568090.5:c.395-2327T>C	ENSP00000456529.1:n.395-2327T>C
NM_002153.2:c.803-2327T>C	NP_002144.1:n.803-2327T>C
XR_001751898.2:n.1021-2327T>C
NM_002153.3:c.803-2327T>C MANE Select	NP_002144.1:n.803-2327T>C