Canonical Allele Identifier: CA1037908

Gene: HMGCS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119764397G>A , CM000663.2:g.119764397G>A	GRCh38
NC_000001.10:g.120307020G>A , CM000663.1:g.120307020G>A	GRCh37
NC_000001.9:g.120108543G>A	NCBI36
NG_013348.1:g.9536C>T , LRG_447:g.9536C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005518.4:c.334C>T MANE Select	NP_005509.1:p.Arg112Trp
ENST00000369406.8:c.334C>T MANE Select	ENSP00000358414.3:p.Arg112Trp
NM_001166107.1:c.334C>T , LRG_447t2:c.334C>T	NP_001159579.1:p.Arg112Trp
NM_005518.3:c.334C>T , LRG_447t1:c.334C>T	NP_005509.1:p.Arg112Trp
ENST00000369406.7:c.334C>T	ENSP00000358414.3:p.Arg112Trp
ENST00000476640.1:n.230C>T
ENST00000544913.2:c.334C>T	ENSP00000439495.2:p.Arg112Trp
XM_011541313.1:c.334C>T	XP_011539615.1:p.Arg112Trp
XM_011541313.2:c.334C>T	XP_011539615.1:p.Arg112Trp