Canonical Allele Identifier: CA120256

Gene: HMGCS2

Linked Data

• ClinVar Variation Id: 9259
• ClinVar RCV Id: RCV000009841 ; RCV000498667
• dbSNP Id: rs137852638
• ExAC: 1:120302538 C / T
• gnomAD v2: 1-120302538-C-T
• gnomAD v3: 1-119759915-C-T
• gnomAD v4: 1-119759915-C-T
• MyVariant Identifiers: chr1:g.120302538C>T (hg19) ; chr1:g.119759915C>T (hg38)
• PubMed: PMID:11479731 ; PMID:12072887 ; PMID:20346956 ; PMID:23751782 ; PMID:25511235

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119759915C>T , CM000663.2:g.119759915C>T	GRCh38
NC_000001.10:g.120302538C>T , CM000663.1:g.120302538C>T	GRCh37
NC_000001.9:g.120104061C>T	NCBI36
NG_013348.1:g.14018G>A , LRG_447:g.14018G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369406.8:c.634G>A MANE Select	ENSP00000358414.3:p.Gly212Arg
ENST00000369406.7:c.634G>A	ENSP00000358414.3:p.Gly212Arg
ENST00000476640.1:n.530G>A
ENST00000544913.2:c.560-633G>A	ENSP00000439495.2:n.560-633G>A
NM_001166107.1:c.560-633G>A , LRG_447t2:c.560-633G>A	NP_001159579.1:n.560-633G>A
NM_005518.3:c.634G>A , LRG_447t1:c.634G>A	NP_005509.1:p.Gly212Arg
XM_011541313.1:c.634G>A	XP_011539615.1:p.Gly212Arg
XM_011541313.2:c.634G>A	XP_011539615.1:p.Gly212Arg
NM_005518.4:c.634G>A MANE Select	NP_005509.1:p.Gly212Arg