Canonical Allele Identifier: CA1037784

Gene: HMGCS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119759147C>T , CM000663.2:g.119759147C>T	GRCh38
NC_000001.10:g.120301770C>T , CM000663.1:g.120301770C>T	GRCh37
NC_000001.9:g.120103293C>T	NCBI36
NG_013348.1:g.14786G>A , LRG_447:g.14786G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005518.4:c.821G>A MANE Select	NP_005509.1:p.Arg274His
ENST00000369406.8:c.821G>A MANE Select	ENSP00000358414.3:p.Arg274His
NM_001166107.1:c.695G>A , LRG_447t2:c.695G>A	NP_001159579.1:p.Arg232His
NM_005518.3:c.821G>A , LRG_447t1:c.821G>A	NP_005509.1:p.Arg274His
ENST00000369406.7:c.821G>A	ENSP00000358414.3:p.Arg274His
ENST00000472375.5:n.268G>A
ENST00000476640.1:n.581+717G>A
ENST00000544913.2:c.695G>A	ENSP00000439495.2:p.Arg232His
XM_011541313.1:c.685+717G>A	XP_011539615.1:n.685+717G>A
XM_011541313.2:c.685+717G>A	XP_011539615.1:n.685+717G>A