Canonical Allele Identifier: CA120251

Gene: HMGCS2

Linked Data

• ClinVar Variation Id: 9258
• ClinVar RCV Id: RCV000009840 ; RCV003407311
• dbSNP Id: rs137852637
• ExAC: 1:120295927 G / A
• gnomAD v2: 1-120295927-G-A
• gnomAD v3: 1-119753304-G-A
• gnomAD v4: 1-119753304-G-A
• COSMIC: COSM1333245
• MyVariant Identifiers: chr1:g.120295927G>A (hg19) ; chr1:g.119753304G>A (hg38)
• PubMed: PMID:9727719 ; PMID:11228257 ; PMID:20346956 ; PMID:23751782 ; PMID:24706027 ; PMID:25511235

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119753304G>A , CM000663.2:g.119753304G>A	GRCh38
NC_000001.10:g.120295927G>A , CM000663.1:g.120295927G>A	GRCh37
NC_000001.9:g.120097450G>A	NCBI36
NG_013348.1:g.20629C>T , LRG_447:g.20629C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369406.8:c.1270C>T MANE Select	ENSP00000358414.3:p.Arg424Ter
ENST00000369406.7:c.1270C>T	ENSP00000358414.3:p.Arg424Ter
ENST00000544913.2:c.1144C>T	ENSP00000439495.2:p.Arg382Ter
NM_001166107.1:c.1144C>T , LRG_447t2:c.1144C>T	NP_001159579.1:p.Arg382Ter
NM_005518.3:c.1270C>T , LRG_447t1:c.1270C>T	NP_005509.1:p.Arg424Ter
XM_011541313.1:c.1105C>T	XP_011539615.1:p.Arg369Ter
XM_011541313.2:c.1105C>T	XP_011539615.1:p.Arg369Ter
NM_005518.4:c.1270C>T MANE Select	NP_005509.1:p.Arg424Ter