Canonical Allele Identifier: CA1037802

Gene: HMGCS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119759242G>C , CM000663.2:g.119759242G>C	GRCh38
NC_000001.10:g.120301865G>C , CM000663.1:g.120301865G>C	GRCh37
NC_000001.9:g.120103388G>C	NCBI36
NG_013348.1:g.14691C>G , LRG_447:g.14691C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005518.4:c.726C>G MANE Select	NP_005509.1:p.Tyr242Ter
ENST00000369406.8:c.726C>G MANE Select	ENSP00000358414.3:p.Tyr242Ter
NM_001166107.1:c.600C>G , LRG_447t2:c.600C>G	NP_001159579.1:p.Tyr200Ter
NM_005518.3:c.726C>G , LRG_447t1:c.726C>G	NP_005509.1:p.Tyr242Ter
ENST00000369406.7:c.726C>G	ENSP00000358414.3:p.Tyr242Ter
ENST00000472375.5:n.173C>G
ENST00000476640.1:n.581+622C>G
ENST00000544913.2:c.600C>G	ENSP00000439495.2:p.Tyr200Ter
XM_011541313.1:c.685+622C>G	XP_011539615.1:n.685+622C>G
XM_011541313.2:c.685+622C>G	XP_011539615.1:n.685+622C>G