Canonical Allele Identifier: CA1037747

Gene: HMGCS2

Linked Data

• ClinVar Variation Id: 280473
• ClinVar RCV Id: RCV000369998 ; RCV001543155
• dbSNP Id: rs142637231
• ExAC: 1:120300050 G / A
• gnomAD v2: 1-120300050-G-A
• gnomAD v3: 1-119757427-G-A
• gnomAD v4: 1-119757427-G-A
• MyVariant Identifiers: chr1:g.120300050G>A (hg19) ; chr1:g.119757427G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119757427G>A , CM000663.2:g.119757427G>A	GRCh38
NC_000001.10:g.120300050G>A , CM000663.1:g.120300050G>A	GRCh37
NC_000001.9:g.120101573G>A	NCBI36
NG_013348.1:g.16506C>T , LRG_447:g.16506C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369406.8:c.862C>T MANE Select	ENSP00000358414.3:p.Arg288Ter
ENST00000369406.7:c.862C>T	ENSP00000358414.3:p.Arg288Ter
ENST00000472375.5:n.309C>T
ENST00000476640.1:n.593C>T
ENST00000544913.2:c.736C>T	ENSP00000439495.2:p.Arg246Ter
NM_001166107.1:c.736C>T , LRG_447t2:c.736C>T	NP_001159579.1:p.Arg246Ter
NM_005518.3:c.862C>T , LRG_447t1:c.862C>T	NP_005509.1:p.Arg288Ter
XM_011541313.1:c.697C>T	XP_011539615.1:p.Arg233Ter
XM_011541313.2:c.697C>T	XP_011539615.1:p.Arg233Ter
NM_005518.4:c.862C>T MANE Select	NP_005509.1:p.Arg288Ter