Canonical Allele Identifier: CA525749240

Gene: HMGCS2

Linked Data

• dbSNP Id: rs1275593446
• gnomAD v2: 1-120293399-ACT-A
• gnomAD v4: 1-119750776-ACT-A
• MyVariant Identifiers: chr1:g.120293400_120293401del (hg19) ; chr1:g.119750777_119750778del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119750779_119750780del , CM000663.2:g.119750779_119750780del	GRCh38
NC_000001.10:g.120293402_120293403del , CM000663.1:g.120293402_120293403del	GRCh37
NC_000001.9:g.120094925_120094926del	NCBI36
NG_013348.1:g.23155_23156del , LRG_447:g.23155_23156del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369406.8:c.*5+19_*5+20del MANE Select	ENSP00000358414.3:n.*5+19_*5+20del
ENST00000369406.7:c.*5+19_*5+20del	ENSP00000358414.3:n.*5+19_*5+20del
ENST00000544913.2:c.*5+19_*5+20del	ENSP00000439495.2:n.*5+19_*5+20del
NM_001166107.1:c.*5+19_*5+20del , LRG_447t2:c.*5+19_*5+20del	NP_001159579.1:n.*5+19_*5+20del
NM_005518.3:c.*5+19_*5+20del , LRG_447t1:c.*5+19_*5+20del	NP_005509.1:n.*5+19_*5+20del
XM_011541313.1:c.*5+19_*5+20del	XP_011539615.1:n.*5+19_*5+20del
XM_011541313.2:c.*5+19_*5+20del	XP_011539615.1:n.*5+19_*5+20del
NM_005518.4:c.*5+19_*5+20del MANE Select	NP_005509.1:n.*5+19_*5+20del