Canonical Allele Identifier: CA341859084

Gene: HMGCS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119755524A>T , CM000663.2:g.119755524A>T	GRCh38
NC_000001.10:g.120298147A>T , CM000663.1:g.120298147A>T	GRCh37
NC_000001.9:g.120099670A>T	NCBI36
NG_013348.1:g.18409T>A , LRG_447:g.18409T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005518.4:c.1090T>A MANE Select	NP_005509.1:p.Phe364Ile
ENST00000369406.8:c.1090T>A MANE Select	ENSP00000358414.3:p.Phe364Ile
NM_001166107.1:c.964T>A , LRG_447t2:c.964T>A	NP_001159579.1:p.Phe322Ile
NM_005518.3:c.1090T>A , LRG_447t1:c.1090T>A	NP_005509.1:p.Phe364Ile
ENST00000369406.7:c.1090T>A	ENSP00000358414.3:p.Phe364Ile
ENST00000472375.5:n.537T>A
ENST00000476640.1:n.821T>A
ENST00000544913.2:c.964T>A	ENSP00000439495.2:p.Phe322Ile
XM_011541313.1:c.925T>A	XP_011539615.1:p.Phe309Ile
XM_011541313.2:c.925T>A	XP_011539615.1:p.Phe309Ile