Canonical Allele Identifier: CA1192439244
Gene: HMGCS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119750799C= , CM000663.2:g.119750799C= GRCh38
NC_000001.10:g.120293422C= , CM000663.1:g.120293422C= GRCh37
NC_000001.9:g.120094945C= NCBI36
NG_013348.1:g.23134G= , LRG_447:g.23134G=

Transcript Alleles

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