Canonical Allele Identifier: CA1037833

Gene: HMGCS2

Linked Data

• dbSNP Id: rs145699892
• ExAC: 1:120302521 C / A
• gnomAD v2: 1-120302521-C-A
• gnomAD v3: 1-119759898-C-A
• gnomAD v4: 1-119759898-C-A
• MyVariant Identifiers: chr1:g.120302521C>A (hg19) ; chr1:g.119759898C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119759898C>A , CM000663.2:g.119759898C>A	GRCh38
NC_000001.10:g.120302521C>A , CM000663.1:g.120302521C>A	GRCh37
NC_000001.9:g.120104044C>A	NCBI36
NG_013348.1:g.14035G>T , LRG_447:g.14035G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369406.8:c.651G>T MANE Select	ENSP00000358414.3:p.Leu217=
ENST00000369406.7:c.651G>T	ENSP00000358414.3:p.Leu217=
ENST00000476640.1:n.547G>T
ENST00000544913.2:c.560-616G>T	ENSP00000439495.2:n.560-616G>T
NM_001166107.1:c.560-616G>T , LRG_447t2:c.560-616G>T	NP_001159579.1:n.560-616G>T
NM_005518.3:c.651G>T , LRG_447t1:c.651G>T	NP_005509.1:p.Leu217=
XM_011541313.1:c.651G>T	XP_011539615.1:p.Leu217=
XM_011541313.2:c.651G>T	XP_011539615.1:p.Leu217=
NM_005518.4:c.651G>T MANE Select	NP_005509.1:p.Leu217=