Canonical Allele Identifier: CA1037749

Gene: HMGCS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119757431G>A , CM000663.2:g.119757431G>A	GRCh38
NC_000001.10:g.120300054G>A , CM000663.1:g.120300054G>A	GRCh37
NC_000001.9:g.120101577G>A	NCBI36
NG_013348.1:g.16502C>T , LRG_447:g.16502C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369406.8:c.858C>T MANE Select	ENSP00000358414.3:p.Ser286=
ENST00000369406.7:c.858C>T	ENSP00000358414.3:p.Ser286=
ENST00000472375.5:n.305C>T
ENST00000476640.1:n.589C>T
ENST00000544913.2:c.732C>T	ENSP00000439495.2:p.Ser244=
NM_001166107.1:c.732C>T , LRG_447t2:c.732C>T	NP_001159579.1:p.Ser244=
NM_005518.3:c.858C>T , LRG_447t1:c.858C>T	NP_005509.1:p.Ser286=
XM_011541313.1:c.693C>T	XP_011539615.1:p.Ser231=
XM_011541313.2:c.693C>T	XP_011539615.1:p.Ser231=
NM_005518.4:c.858C>T MANE Select	NP_005509.1:p.Ser286=