Canonical Allele Identifier: CA1037848

Gene: HMGCS2

Linked Data

• ClinVar Variation Id: 389052
• ClinVar RCV Id: RCV000428846 ; RCV000888818
• dbSNP Id: rs201735169
• ExAC: 1:120302602 G / A
• gnomAD v2: 1-120302602-G-A
• gnomAD v3: 1-119759979-G-A
• gnomAD v4: 1-119759979-G-A
• MyVariant Identifiers: chr1:g.120302602G>A (hg19) ; chr1:g.119759979G>A (hg38)
• Allelic Epigenome: Alellic Epigenome (raw data)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119759979G>A , CM000663.2:g.119759979G>A	GRCh38
NC_000001.10:g.120302602G>A , CM000663.1:g.120302602G>A	GRCh37
NC_000001.9:g.120104125G>A	NCBI36
NG_013348.1:g.13954C>T , LRG_447:g.13954C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369406.8:c.570C>T MANE Select	ENSP00000358414.3:p.Ala190=
ENST00000369406.7:c.570C>T	ENSP00000358414.3:p.Ala190=
ENST00000476640.1:n.466C>T
ENST00000544913.2:c.560-697C>T	ENSP00000439495.2:n.560-697C>T
NM_001166107.1:c.560-697C>T , LRG_447t2:c.560-697C>T	NP_001159579.1:n.560-697C>T
NM_005518.3:c.570C>T , LRG_447t1:c.570C>T	NP_005509.1:p.Ala190=
XM_011541313.1:c.570C>T	XP_011539615.1:p.Ala190=
XM_011541313.2:c.570C>T	XP_011539615.1:p.Ala190=
NM_005518.4:c.570C>T MANE Select	NP_005509.1:p.Ala190=