Canonical Allele Identifier: CA341863264

Gene: HMGCS2

Linked Data

• dbSNP Id: rs761373362
• gnomAD v4: 1-119759986-C-G
• MyVariant Identifiers: chr1:g.120302609C>G (hg19) ; chr1:g.119759986C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119759986C>G , CM000663.2:g.119759986C>G	GRCh38
NC_000001.10:g.120302609C>G , CM000663.1:g.120302609C>G	GRCh37
NC_000001.9:g.120104132C>G	NCBI36
NG_013348.1:g.13947G>C , LRG_447:g.13947G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369406.8:c.563G>C MANE Select	ENSP00000358414.3:p.Arg188Pro
ENST00000369406.7:c.563G>C	ENSP00000358414.3:p.Arg188Pro
ENST00000476640.1:n.459G>C
ENST00000544913.2:c.560-704G>C	ENSP00000439495.2:n.560-704G>C
NM_001166107.1:c.560-704G>C , LRG_447t2:c.560-704G>C	NP_001159579.1:n.560-704G>C
NM_005518.3:c.563G>C , LRG_447t1:c.563G>C	NP_005509.1:p.Arg188Pro
XM_011541313.1:c.563G>C	XP_011539615.1:p.Arg188Pro
XM_011541313.2:c.563G>C	XP_011539615.1:p.Arg188Pro
NM_005518.4:c.563G>C MANE Select	NP_005509.1:p.Arg188Pro