Canonical Allele Identifier: CA1192439246
Gene: HMGCS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119750804A= , CM000663.2:g.119750804A= GRCh38
NC_000001.10:g.120293427A= , CM000663.1:g.120293427A= GRCh37
NC_000001.9:g.120094950A= NCBI36
NG_013348.1:g.23129T= , LRG_447:g.23129T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000369406.8:c.1525T= MANE Select ENSP00000358414.3:p.Ter509=
ENST00000369406.7:c.1525T= ENSP00000358414.3:p.Ter509=
ENST00000544913.2:c.1399T= ENSP00000439495.2:p.Ter467=
NM_001166107.1:c.1399T= , LRG_447t2:c.1399T= NP_001159579.1:p.Ter467=
NM_005518.3:c.1525T= , LRG_447t1:c.1525T= NP_005509.1:p.Ter509=
XM_011541313.1:c.1360T= XP_011539615.1:p.Ter454=
XM_011541313.2:c.1360T= XP_011539615.1:p.Ter454=
NM_005518.4:c.1525T= MANE Select NP_005509.1:p.Ter509=