Canonical Allele Identifier: CA1192442735

Gene: HMGCS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119759978T= , CM000663.2:g.119759978T=	GRCh38
NC_000001.10:g.120302601T= , CM000663.1:g.120302601T=	GRCh37
NC_000001.9:g.120104124T=	NCBI36
NG_013348.1:g.13955A= , LRG_447:g.13955A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369406.8:c.571A= MANE Select	ENSP00000358414.3:p.Met191=
ENST00000369406.7:c.571A=	ENSP00000358414.3:p.Met191=
ENST00000476640.1:n.467A=
ENST00000544913.2:c.560-696A=	ENSP00000439495.2:n.560-696A=
NM_001166107.1:c.560-696A= , LRG_447t2:c.560-696A=	NP_001159579.1:n.560-696A=
NM_005518.3:c.571A= , LRG_447t1:c.571A=	NP_005509.1:p.Met191=
XM_011541313.1:c.571A=	XP_011539615.1:p.Met191=
XM_011541313.2:c.571A=	XP_011539615.1:p.Met191=
NM_005518.4:c.571A= MANE Select	NP_005509.1:p.Met191=