Canonical Allele Identifier: CA341863104

Gene: HMGCS2

Linked Data

• gnomAD v4: 1-119759950-T-G
• MyVariant Identifiers: chr1:g.120302573T>G (hg19) ; chr1:g.119759950T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119759950T>G , CM000663.2:g.119759950T>G	GRCh38
NC_000001.10:g.120302573T>G , CM000663.1:g.120302573T>G	GRCh37
NC_000001.9:g.120104096T>G	NCBI36
NG_013348.1:g.13983A>C , LRG_447:g.13983A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369406.8:c.599A>C MANE Select	ENSP00000358414.3:p.Tyr200Ser
ENST00000369406.7:c.599A>C	ENSP00000358414.3:p.Tyr200Ser
ENST00000476640.1:n.495A>C
ENST00000544913.2:c.560-668A>C	ENSP00000439495.2:n.560-668A>C
NM_001166107.1:c.560-668A>C , LRG_447t2:c.560-668A>C	NP_001159579.1:n.560-668A>C
NM_005518.3:c.599A>C , LRG_447t1:c.599A>C	NP_005509.1:p.Tyr200Ser
XM_011541313.1:c.599A>C	XP_011539615.1:p.Tyr200Ser
XM_011541313.2:c.599A>C	XP_011539615.1:p.Tyr200Ser
NM_005518.4:c.599A>C MANE Select	NP_005509.1:p.Tyr200Ser