Canonical Allele Identifier: CA341863077

Gene: HMGCS2

Linked Data

• dbSNP Id: rs1270791990
• gnomAD v2: 1-120302566-A-T
• gnomAD v4: 1-119759943-A-T
• MyVariant Identifiers: chr1:g.120302566A>T (hg19) ; chr1:g.119759943A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119759943A>T , CM000663.2:g.119759943A>T	GRCh38
NC_000001.10:g.120302566A>T , CM000663.1:g.120302566A>T	GRCh37
NC_000001.9:g.120104089A>T	NCBI36
NG_013348.1:g.13990T>A , LRG_447:g.13990T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369406.8:c.606T>A MANE Select	ENSP00000358414.3:p.Ser202Arg
ENST00000369406.7:c.606T>A	ENSP00000358414.3:p.Ser202Arg
ENST00000476640.1:n.502T>A
ENST00000544913.2:c.560-661T>A	ENSP00000439495.2:n.560-661T>A
NM_001166107.1:c.560-661T>A , LRG_447t2:c.560-661T>A	NP_001159579.1:n.560-661T>A
NM_005518.3:c.606T>A , LRG_447t1:c.606T>A	NP_005509.1:p.Ser202Arg
XM_011541313.1:c.606T>A	XP_011539615.1:p.Ser202Arg
XM_011541313.2:c.606T>A	XP_011539615.1:p.Ser202Arg
NM_005518.4:c.606T>A MANE Select	NP_005509.1:p.Ser202Arg