Canonical Allele Identifier: CA420021063

Gene: HMGCS2

Linked Data

• gnomAD v4: 1-119753284-A-T
• MyVariant Identifiers: chr1:g.120295907A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119753284A>T , CM000663.2:g.119753284A>T	GRCh38
NC_000001.10:g.120295907A>T , CM000663.1:g.120295907A>T	GRCh37
NC_000001.9:g.120097430A>T	NCBI36
NG_013348.1:g.20649T>A , LRG_447:g.20649T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369406.8:c.1290T>A MANE Select	ENSP00000358414.3:p.Ala430=
ENST00000369406.7:c.1290T>A	ENSP00000358414.3:p.Ala430=
ENST00000544913.2:c.1164T>A	ENSP00000439495.2:p.Ala388=
NM_001166107.1:c.1164T>A , LRG_447t2:c.1164T>A	NP_001159579.1:p.Ala388=
NM_005518.3:c.1290T>A , LRG_447t1:c.1290T>A	NP_005509.1:p.Ala430=
XM_011541313.1:c.1125T>A	XP_011539615.1:p.Ala375=
XM_011541313.2:c.1125T>A	XP_011539615.1:p.Ala375=
NM_005518.4:c.1290T>A MANE Select	NP_005509.1:p.Ala430=