Canonical Allele Identifier: CA312651

Gene: HMGCS2

Linked Data

• ClinVar Variation Id: 203781
• ClinVar RCV Id: RCV000185974 ; RCV003509509
• dbSNP Id: rs796051979
• gnomAD v3: 1-119759862-A-T
• gnomAD v4: 1-119759862-A-T
• MyVariant Identifiers: chr1:g.120302485A>T (hg19) ; chr1:g.119759862A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119759862A>T , CM000663.2:g.119759862A>T	GRCh38
NC_000001.10:g.120302485A>T , CM000663.1:g.120302485A>T	GRCh37
NC_000001.9:g.120104008A>T	NCBI36
NG_013348.1:g.14071T>A , LRG_447:g.14071T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369406.8:c.685+2T>A MANE Select	ENSP00000358414.3:n.685+2T>A
ENST00000369406.7:c.685+2T>A	ENSP00000358414.3:n.685+2T>A
ENST00000476640.1:n.581+2T>A
ENST00000544913.2:c.560-580T>A	ENSP00000439495.2:n.560-580T>A
NM_001166107.1:c.560-580T>A , LRG_447t2:c.560-580T>A	NP_001159579.1:n.560-580T>A
NM_005518.3:c.685+2T>A , LRG_447t1:c.685+2T>A	NP_005509.1:n.685+2T>A
XM_011541313.1:c.685+2T>A	XP_011539615.1:n.685+2T>A
XM_011541313.2:c.685+2T>A	XP_011539615.1:n.685+2T>A
NM_005518.4:c.685+2T>A MANE Select	NP_005509.1:n.685+2T>A