Canonical Allele Identifier: CA1140915623
Gene: HMGCS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119753254A= , CM000663.2:g.119753254A= GRCh38
NC_000001.10:g.120295877A= , CM000663.1:g.120295877A= GRCh37
NC_000001.9:g.120097400A= NCBI36
NG_013348.1:g.20679T= , LRG_447:g.20679T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000369406.8:c.1294+26T= MANE Select ENSP00000358414.3:n.1294+26T=
ENST00000369406.7:c.1294+26T= ENSP00000358414.3:n.1294+26T=
ENST00000544913.2:c.1168+26T= ENSP00000439495.2:n.1168+26T=
NM_001166107.1:c.1168+26T= , LRG_447t2:c.1168+26T= NP_001159579.1:n.1168+26T=
NM_005518.3:c.1294+26T= , LRG_447t1:c.1294+26T= NP_005509.1:n.1294+26T=
XM_011541313.1:c.1129+26T= XP_011539615.1:n.1129+26T=
XM_011541313.2:c.1129+26T= XP_011539615.1:n.1129+26T=
NM_005518.4:c.1294+26T= MANE Select NP_005509.1:n.1294+26T=