Canonical Allele Identifier: CA341859475

Gene: HMGCS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119755584C>A , CM000663.2:g.119755584C>A	GRCh38
NC_000001.10:g.120298207C>A , CM000663.1:g.120298207C>A	GRCh37
NC_000001.9:g.120099730C>A	NCBI36
NG_013348.1:g.18349G>T , LRG_447:g.18349G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005518.4:c.1030G>T MANE Select	NP_005509.1:p.Glu344Ter
ENST00000369406.8:c.1030G>T MANE Select	ENSP00000358414.3:p.Glu344Ter
NM_001166107.1:c.904G>T , LRG_447t2:c.904G>T	NP_001159579.1:p.Glu302Ter
NM_005518.3:c.1030G>T , LRG_447t1:c.1030G>T	NP_005509.1:p.Glu344Ter
ENST00000369406.7:c.1030G>T	ENSP00000358414.3:p.Glu344Ter
ENST00000472375.5:n.477G>T
ENST00000476640.1:n.761G>T
ENST00000544913.2:c.904G>T	ENSP00000439495.2:p.Glu302Ter
XM_011541313.1:c.865G>T	XP_011539615.1:p.Glu289Ter
XM_011541313.2:c.865G>T	XP_011539615.1:p.Glu289Ter