Canonical Allele Identifier: CA1192442762
Gene: HMGCS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119759992G= , CM000663.2:g.119759992G= GRCh38
NC_000001.10:g.120302615G= , CM000663.1:g.120302615G= GRCh37
NC_000001.9:g.120104138G= NCBI36
NG_013348.1:g.13941C= , LRG_447:g.13941C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000369406.8:c.560-3C= MANE Select ENSP00000358414.3:n.560-3C=
ENST00000369406.7:c.560-3C= ENSP00000358414.3:n.560-3C=
ENST00000476640.1:n.456-3C=
ENST00000544913.2:c.560-710C= ENSP00000439495.2:n.560-710C=
NM_001166107.1:c.560-710C= , LRG_447t2:c.560-710C= NP_001159579.1:n.560-710C=
NM_005518.3:c.560-3C= , LRG_447t1:c.560-3C= NP_005509.1:n.560-3C=
XM_011541313.1:c.560-3C= XP_011539615.1:n.560-3C=
XM_011541313.2:c.560-3C= XP_011539615.1:n.560-3C=
NM_005518.4:c.560-3C= MANE Select NP_005509.1:n.560-3C=