Canonical Allele Identifier: CA341862509

Gene: HMGCS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119759249T>G , CM000663.2:g.119759249T>G	GRCh38
NC_000001.10:g.120301872T>G , CM000663.1:g.120301872T>G	GRCh37
NC_000001.9:g.120103395T>G	NCBI36
NG_013348.1:g.14684A>C , LRG_447:g.14684A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005518.4:c.719A>C MANE Select	NP_005509.1:p.Asp240Ala
ENST00000369406.8:c.719A>C MANE Select	ENSP00000358414.3:p.Asp240Ala
NM_001166107.1:c.593A>C , LRG_447t2:c.593A>C	NP_001159579.1:p.Asp198Ala
NM_005518.3:c.719A>C , LRG_447t1:c.719A>C	NP_005509.1:p.Asp240Ala
ENST00000369406.7:c.719A>C	ENSP00000358414.3:p.Asp240Ala
ENST00000472375.5:n.166A>C
ENST00000476640.1:n.581+615A>C
ENST00000544913.2:c.593A>C	ENSP00000439495.2:p.Asp198Ala
XM_011541313.1:c.685+615A>C	XP_011539615.1:n.685+615A>C
XM_011541313.2:c.685+615A>C	XP_011539615.1:n.685+615A>C