Canonical Allele Identifier: CA341863141

Gene: HMGCS2

Linked Data

• ClinVar Variation Id: 1464049
• ClinVar RCV Id: RCV001961264
• dbSNP Id: rs2101263939
• MyVariant Identifiers: chr1:g.120302583T>C (hg19) ; chr1:g.119759960T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119759960T>C , CM000663.2:g.119759960T>C	GRCh38
NC_000001.10:g.120302583T>C , CM000663.1:g.120302583T>C	GRCh37
NC_000001.9:g.120104106T>C	NCBI36
NG_013348.1:g.13973A>G , LRG_447:g.13973A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369406.8:c.589A>G MANE Select	ENSP00000358414.3:p.Ile197Val
ENST00000369406.7:c.589A>G	ENSP00000358414.3:p.Ile197Val
ENST00000476640.1:n.485A>G
ENST00000544913.2:c.560-678A>G	ENSP00000439495.2:n.560-678A>G
NM_001166107.1:c.560-678A>G , LRG_447t2:c.560-678A>G	NP_001159579.1:n.560-678A>G
NM_005518.3:c.589A>G , LRG_447t1:c.589A>G	NP_005509.1:p.Ile197Val
XM_011541313.1:c.589A>G	XP_011539615.1:p.Ile197Val
XM_011541313.2:c.589A>G	XP_011539615.1:p.Ile197Val
NM_005518.4:c.589A>G MANE Select	NP_005509.1:p.Ile197Val