Canonical Allele Identifier: CA1192442402

Gene: HMGCS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119759671_119759672delinsGA , CM000663.2:g.119759671_119759672delinsGA	GRCh38
NC_000001.10:g.120302294_120302295delinsGA , CM000663.1:g.120302294_120302295delinsGA	GRCh37
NC_000001.9:g.120103817_120103818delinsGA	NCBI36
NG_013348.1:g.14261_14262delinsTC , LRG_447:g.14261_14262delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369406.8:c.685+192_685+193delinsTC MANE Select	ENSP00000358414.3:n.685+192_685+193delinsTC
ENST00000369406.7:c.685+192_685+193delinsTC	ENSP00000358414.3:n.685+192_685+193delinsTC
ENST00000476640.1:n.581+192_581+193delinsTC
ENST00000544913.2:c.560-390_560-389delinsTC	ENSP00000439495.2:n.560-390_560-389delinsTC
NM_001166107.1:c.560-390_560-389delinsTC , LRG_447t2:c.560-390_560-389delinsTC	NP_001159579.1:n.560-390_560-389delinsTC
NM_005518.3:c.685+192_685+193delinsTC , LRG_447t1:c.685+192_685+193delinsTC	NP_005509.1:n.685+192_685+193delinsTC
XM_011541313.1:c.685+192_685+193delinsTC	XP_011539615.1:n.685+192_685+193delinsTC
XM_011541313.2:c.685+192_685+193delinsTC	XP_011539615.1:n.685+192_685+193delinsTC
NM_005518.4:c.685+192_685+193delinsTC MANE Select	NP_005509.1:n.685+192_685+193delinsTC