Canonical Allele Identifier: CA1192442533

Gene: HMGCS2

Linked Data

• dbSNP Id: rs1652974511
• gnomAD v4: 1-119759773-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119759774del , CM000663.2:g.119759774del	GRCh38
NC_000001.10:g.120302397del , CM000663.1:g.120302397del	GRCh37
NC_000001.9:g.120103920del	NCBI36
NG_013348.1:g.14159del , LRG_447:g.14159del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369406.8:c.685+90del MANE Select	ENSP00000358414.3:n.685+90del
ENST00000369406.7:c.685+90del	ENSP00000358414.3:n.685+90del
ENST00000476640.1:n.581+90del
ENST00000544913.2:c.560-492del	ENSP00000439495.2:n.560-492del
NM_001166107.1:c.560-492del , LRG_447t2:c.560-492del	NP_001159579.1:n.560-492del
NM_005518.3:c.685+90del , LRG_447t1:c.685+90del	NP_005509.1:n.685+90del
XM_011541313.1:c.685+90del	XP_011539615.1:n.685+90del
XM_011541313.2:c.685+90del	XP_011539615.1:n.685+90del
NM_005518.4:c.685+90del MANE Select	NP_005509.1:n.685+90del