Canonical Allele Identifier: CA341863039

Gene: HMGCS2

Linked Data

• dbSNP Id: rs748337518
• gnomAD v2: 1-120302556-G-T
• gnomAD v3: 1-119759933-G-T
• gnomAD v4: 1-119759933-G-T
• MyVariant Identifiers: chr1:g.120302556G>T (hg19) ; chr1:g.119759933G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119759933G>T , CM000663.2:g.119759933G>T	GRCh38
NC_000001.10:g.120302556G>T , CM000663.1:g.120302556G>T	GRCh37
NC_000001.9:g.120104079G>T	NCBI36
NG_013348.1:g.14000C>A , LRG_447:g.14000C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369406.8:c.616C>A MANE Select	ENSP00000358414.3:p.Arg206Ser
ENST00000369406.7:c.616C>A	ENSP00000358414.3:p.Arg206Ser
ENST00000476640.1:n.512C>A
ENST00000544913.2:c.560-651C>A	ENSP00000439495.2:n.560-651C>A
NM_001166107.1:c.560-651C>A , LRG_447t2:c.560-651C>A	NP_001159579.1:n.560-651C>A
NM_005518.3:c.616C>A , LRG_447t1:c.616C>A	NP_005509.1:p.Arg206Ser
XM_011541313.1:c.616C>A	XP_011539615.1:p.Arg206Ser
XM_011541313.2:c.616C>A	XP_011539615.1:p.Arg206Ser
NM_005518.4:c.616C>A MANE Select	NP_005509.1:p.Arg206Ser