Canonical Allele Identifier: CA1192442741
Gene: HMGCS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119759983T= , CM000663.2:g.119759983T= GRCh38
NC_000001.10:g.120302606T= , CM000663.1:g.120302606T= GRCh37
NC_000001.9:g.120104129T= NCBI36
NG_013348.1:g.13950A= , LRG_447:g.13950A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000369406.8:c.566A= MANE Select ENSP00000358414.3:p.Tyr189=
ENST00000369406.7:c.566A= ENSP00000358414.3:p.Tyr189=
ENST00000476640.1:n.462A=
ENST00000544913.2:c.560-701A= ENSP00000439495.2:n.560-701A=
NM_001166107.1:c.560-701A= , LRG_447t2:c.560-701A= NP_001159579.1:n.560-701A=
NM_005518.3:c.566A= , LRG_447t1:c.566A= NP_005509.1:p.Tyr189=
XM_011541313.1:c.566A= XP_011539615.1:p.Tyr189=
XM_011541313.2:c.566A= XP_011539615.1:p.Tyr189=
NM_005518.4:c.566A= MANE Select NP_005509.1:p.Tyr189=