Canonical Allele Identifier: CA1192440246

Gene: HMGCS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119753217A= , CM000663.2:g.119753217A=	GRCh38
NC_000001.10:g.120295840A= , CM000663.1:g.120295840A=	GRCh37
NC_000001.9:g.120097363A=	NCBI36
NG_013348.1:g.20716T= , LRG_447:g.20716T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369406.8:c.1294+63T= MANE Select	ENSP00000358414.3:n.1294+63T=
ENST00000369406.7:c.1294+63T=	ENSP00000358414.3:n.1294+63T=
ENST00000544913.2:c.1168+63T=	ENSP00000439495.2:n.1168+63T=
NM_001166107.1:c.1168+63T= , LRG_447t2:c.1168+63T=	NP_001159579.1:n.1168+63T=
NM_005518.3:c.1294+63T= , LRG_447t1:c.1294+63T=	NP_005509.1:n.1294+63T=
XM_011541313.1:c.1129+63T=	XP_011539615.1:n.1129+63T=
XM_011541313.2:c.1129+63T=	XP_011539615.1:n.1129+63T=
NM_005518.4:c.1294+63T= MANE Select	NP_005509.1:n.1294+63T=