Canonical Allele Identifier: CA1037742

Gene: HMGCS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119757423G>T , CM000663.2:g.119757423G>T	GRCh38
NC_000001.10:g.120300046G>T , CM000663.1:g.120300046G>T	GRCh37
NC_000001.9:g.120101569G>T	NCBI36
NG_013348.1:g.16510C>A , LRG_447:g.16510C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005518.4:c.866C>A MANE Select	NP_005509.1:p.Pro289His
ENST00000369406.8:c.866C>A MANE Select	ENSP00000358414.3:p.Pro289His
NM_001166107.1:c.740C>A , LRG_447t2:c.740C>A	NP_001159579.1:p.Pro247His
NM_005518.3:c.866C>A , LRG_447t1:c.866C>A	NP_005509.1:p.Pro289His
ENST00000369406.7:c.866C>A	ENSP00000358414.3:p.Pro289His
ENST00000472375.5:n.313C>A
ENST00000476640.1:n.597C>A
ENST00000544913.2:c.740C>A	ENSP00000439495.2:p.Pro247His
XM_011541313.1:c.701C>A	XP_011539615.1:p.Pro234His
XM_011541313.2:c.701C>A	XP_011539615.1:p.Pro234His