Canonical Allele Identifier: CA1037832

Gene: HMGCS2

Linked Data

• dbSNP Id: rs369834382
• ExAC: 1:120302519 A / G
• gnomAD v2: 1-120302519-A-G
• gnomAD v3: 1-119759896-A-G
• gnomAD v4: 1-119759896-A-G
• MyVariant Identifiers: chr1:g.120302519A>G (hg19) ; chr1:g.119759896A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119759896A>G , CM000663.2:g.119759896A>G	GRCh38
NC_000001.10:g.120302519A>G , CM000663.1:g.120302519A>G	GRCh37
NC_000001.9:g.120104042A>G	NCBI36
NG_013348.1:g.14037T>C , LRG_447:g.14037T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369406.8:c.653T>C MANE Select	ENSP00000358414.3:p.Ile218Thr
ENST00000369406.7:c.653T>C	ENSP00000358414.3:p.Ile218Thr
ENST00000476640.1:n.549T>C
ENST00000544913.2:c.560-614T>C	ENSP00000439495.2:n.560-614T>C
NM_001166107.1:c.560-614T>C , LRG_447t2:c.560-614T>C	NP_001159579.1:n.560-614T>C
NM_005518.3:c.653T>C , LRG_447t1:c.653T>C	NP_005509.1:p.Ile218Thr
XM_011541313.1:c.653T>C	XP_011539615.1:p.Ile218Thr
XM_011541313.2:c.653T>C	XP_011539615.1:p.Ile218Thr
NM_005518.4:c.653T>C MANE Select	NP_005509.1:p.Ile218Thr