Canonical Allele Identifier: CA1192442606

Gene: HMGCS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119759879G= , CM000663.2:g.119759879G=	GRCh38
NC_000001.10:g.120302502G= , CM000663.1:g.120302502G=	GRCh37
NC_000001.9:g.120104025G=	NCBI36
NG_013348.1:g.14054C= , LRG_447:g.14054C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369406.8:c.670C= MANE Select	ENSP00000358414.3:p.Leu224=
ENST00000369406.7:c.670C=	ENSP00000358414.3:p.Leu224=
ENST00000476640.1:n.566C=
ENST00000544913.2:c.560-597C=	ENSP00000439495.2:n.560-597C=
NM_001166107.1:c.560-597C= , LRG_447t2:c.560-597C=	NP_001159579.1:n.560-597C=
NM_005518.3:c.670C= , LRG_447t1:c.670C=	NP_005509.1:p.Leu224=
XM_011541313.1:c.670C=	XP_011539615.1:p.Leu224=
XM_011541313.2:c.670C=	XP_011539615.1:p.Leu224=
NM_005518.4:c.670C= MANE Select	NP_005509.1:p.Leu224=