Canonical Allele Identifier: CA1192442637
Gene: HMGCS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119759913T= , CM000663.2:g.119759913T= GRCh38
NC_000001.10:g.120302536T= , CM000663.1:g.120302536T= GRCh37
NC_000001.9:g.120104059T= NCBI36
NG_013348.1:g.14020A= , LRG_447:g.14020A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000369406.8:c.636A= MANE Select ENSP00000358414.3:p.Gly212=
ENST00000369406.7:c.636A= ENSP00000358414.3:p.Gly212=
ENST00000476640.1:n.532A=
ENST00000544913.2:c.560-631A= ENSP00000439495.2:n.560-631A=
NM_001166107.1:c.560-631A= , LRG_447t2:c.560-631A= NP_001159579.1:n.560-631A=
NM_005518.3:c.636A= , LRG_447t1:c.636A= NP_005509.1:p.Gly212=
XM_011541313.1:c.636A= XP_011539615.1:p.Gly212=
XM_011541313.2:c.636A= XP_011539615.1:p.Gly212=
NM_005518.4:c.636A= MANE Select NP_005509.1:p.Gly212=