Canonical Allele Identifier: CA1192440254

Gene: HMGCS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119753231C= , CM000663.2:g.119753231C=	GRCh38
NC_000001.10:g.120295854C= , CM000663.1:g.120295854C=	GRCh37
NC_000001.9:g.120097377C=	NCBI36
NG_013348.1:g.20702G= , LRG_447:g.20702G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369406.8:c.1294+49G= MANE Select	ENSP00000358414.3:n.1294+49G=
ENST00000369406.7:c.1294+49G=	ENSP00000358414.3:n.1294+49G=
ENST00000544913.2:c.1168+49G=	ENSP00000439495.2:n.1168+49G=
NM_001166107.1:c.1168+49G= , LRG_447t2:c.1168+49G=	NP_001159579.1:n.1168+49G=
NM_005518.3:c.1294+49G= , LRG_447t1:c.1294+49G=	NP_005509.1:n.1294+49G=
XM_011541313.1:c.1129+49G=	XP_011539615.1:n.1129+49G=
XM_011541313.2:c.1129+49G=	XP_011539615.1:n.1129+49G=
NM_005518.4:c.1294+49G= MANE Select	NP_005509.1:n.1294+49G=