Canonical Allele Identifier: CA420026357

Gene: HMGCS2

Linked Data

• gnomAD v4: 1-119759880-A-C
• MyVariant Identifiers: chr1:g.120302503A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119759880A>C , CM000663.2:g.119759880A>C	GRCh38
NC_000001.10:g.120302503A>C , CM000663.1:g.120302503A>C	GRCh37
NC_000001.9:g.120104026A>C	NCBI36
NG_013348.1:g.14053T>G , LRG_447:g.14053T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369406.8:c.669T>G MANE Select	ENSP00000358414.3:p.Pro223=
ENST00000369406.7:c.669T>G	ENSP00000358414.3:p.Pro223=
ENST00000476640.1:n.565T>G
ENST00000544913.2:c.560-598T>G	ENSP00000439495.2:n.560-598T>G
NM_001166107.1:c.560-598T>G , LRG_447t2:c.560-598T>G	NP_001159579.1:n.560-598T>G
NM_005518.3:c.669T>G , LRG_447t1:c.669T>G	NP_005509.1:p.Pro223=
XM_011541313.1:c.669T>G	XP_011539615.1:p.Pro223=
XM_011541313.2:c.669T>G	XP_011539615.1:p.Pro223=
NM_005518.4:c.669T>G MANE Select	NP_005509.1:p.Pro223=