Canonical Allele Identifier: CA1192442785

Gene: HMGCS2

Linked Data

• dbSNP Id: rs1652987566
• gnomAD v4: 1-119760011-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119760014del , CM000663.2:g.119760014del	GRCh38
NC_000001.10:g.120302637del , CM000663.1:g.120302637del	GRCh37
NC_000001.9:g.120104160del	NCBI36
NG_013348.1:g.13921del , LRG_447:g.13921del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369406.8:c.560-23del MANE Select	ENSP00000358414.3:n.560-23del
ENST00000369406.7:c.560-23del	ENSP00000358414.3:n.560-23del
ENST00000476640.1:n.456-23del
ENST00000544913.2:c.560-730del	ENSP00000439495.2:n.560-730del
NM_001166107.1:c.560-730del , LRG_447t2:c.560-730del	NP_001159579.1:n.560-730del
NM_005518.3:c.560-23del , LRG_447t1:c.560-23del	NP_005509.1:n.560-23del
XM_011541313.1:c.560-23del	XP_011539615.1:n.560-23del
XM_011541313.2:c.560-23del	XP_011539615.1:n.560-23del
NM_005518.4:c.560-23del MANE Select	NP_005509.1:n.560-23del