Canonical Allele Identifier: CA120266

Gene: HMGCS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119764231T>C , CM000663.2:g.119764231T>C	GRCh38
NC_000001.10:g.120306854T>C , CM000663.1:g.120306854T>C	GRCh37
NC_000001.9:g.120108377T>C	NCBI36
NG_013348.1:g.9702A>G , LRG_447:g.9702A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005518.4:c.500A>G MANE Select	NP_005509.1:p.Tyr167Cys
ENST00000369406.8:c.500A>G MANE Select	ENSP00000358414.3:p.Tyr167Cys
NM_001166107.1:c.500A>G , LRG_447t2:c.500A>G	NP_001159579.1:p.Tyr167Cys
NM_005518.3:c.500A>G , LRG_447t1:c.500A>G	NP_005509.1:p.Tyr167Cys
ENST00000369406.7:c.500A>G	ENSP00000358414.3:p.Tyr167Cys
ENST00000476640.1:n.396A>G
ENST00000544913.2:c.500A>G	ENSP00000439495.2:p.Tyr167Cys
XM_011541313.1:c.500A>G	XP_011539615.1:p.Tyr167Cys
XM_011541313.2:c.500A>G	XP_011539615.1:p.Tyr167Cys