Canonical Allele Identifier: CA1037507

Gene: HMGCS2

Linked Data

• dbSNP Id: rs773767605
• ExAC: 1:120293401 T / A
• gnomAD v4: 1-119750778-T-A
• MyVariant Identifiers: chr1:g.120293401T>A (hg19) ; chr1:g.119750778T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119750778T>A , CM000663.2:g.119750778T>A	GRCh38
NC_000001.10:g.120293401T>A , CM000663.1:g.120293401T>A	GRCh37
NC_000001.9:g.120094924T>A	NCBI36
NG_013348.1:g.23155A>T , LRG_447:g.23155A>T

Transcript Alleles

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