Canonical Allele Identifier: CA1037560

Gene: HMGCS2

Linked Data

• ClinVar Variation Id: 292330
• ClinVar RCV Id: RCV000339641 ; RCV000419883
• dbSNP Id: rs142776952
• ExAC: 1:120295173 C / T
• gnomAD v2: 1-120295173-C-T
• gnomAD v3: 1-119752550-C-T
• gnomAD v4: 1-119752550-C-T
• MyVariant Identifiers: chr1:g.120295173C>T (hg19) ; chr1:g.119752550C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119752550C>T , CM000663.2:g.119752550C>T	GRCh38
NC_000001.10:g.120295173C>T , CM000663.1:g.120295173C>T	GRCh37
NC_000001.9:g.120096696C>T	NCBI36
NG_013348.1:g.21383G>A , LRG_447:g.21383G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369406.8:c.1419G>A MANE Select	ENSP00000358414.3:p.Lys473=
ENST00000369406.7:c.1419G>A	ENSP00000358414.3:p.Lys473=
ENST00000544913.2:c.1293G>A	ENSP00000439495.2:p.Lys431=
NM_001166107.1:c.1293G>A , LRG_447t2:c.1293G>A	NP_001159579.1:p.Lys431=
NM_005518.3:c.1419G>A , LRG_447t1:c.1419G>A	NP_005509.1:p.Lys473=
XM_011541313.1:c.1254G>A	XP_011539615.1:p.Lys418=
XM_011541313.2:c.1254G>A	XP_011539615.1:p.Lys418=
NM_005518.4:c.1419G>A MANE Select	NP_005509.1:p.Lys473=