Canonical Allele Identifier: CA420021095

Gene: HMGCS2

Linked Data

• COSMIC: COSM3472260
• MyVariant Identifiers: chr1:g.120295916C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119753293C>T , CM000663.2:g.119753293C>T	GRCh38
NC_000001.10:g.120295916C>T , CM000663.1:g.120295916C>T	GRCh37
NC_000001.9:g.120097439C>T	NCBI36
NG_013348.1:g.20640G>A , LRG_447:g.20640G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369406.8:c.1281G>A MANE Select	ENSP00000358414.3:p.Gln427=
ENST00000369406.7:c.1281G>A	ENSP00000358414.3:p.Gln427=
ENST00000544913.2:c.1155G>A	ENSP00000439495.2:p.Gln385=
NM_001166107.1:c.1155G>A , LRG_447t2:c.1155G>A	NP_001159579.1:p.Gln385=
NM_005518.3:c.1281G>A , LRG_447t1:c.1281G>A	NP_005509.1:p.Gln427=
XM_011541313.1:c.1116G>A	XP_011539615.1:p.Gln372=
XM_011541313.2:c.1116G>A	XP_011539615.1:p.Gln372=
NM_005518.4:c.1281G>A MANE Select	NP_005509.1:p.Gln427=