Canonical Allele Identifier: CA1192440255
Gene: HMGCS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119753234C= , CM000663.2:g.119753234C= GRCh38
NC_000001.10:g.120295857C= , CM000663.1:g.120295857C= GRCh37
NC_000001.9:g.120097380C= NCBI36
NG_013348.1:g.20699G= , LRG_447:g.20699G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000369406.8:c.1294+46G= MANE Select ENSP00000358414.3:n.1294+46G=
ENST00000369406.7:c.1294+46G= ENSP00000358414.3:n.1294+46G=
ENST00000544913.2:c.1168+46G= ENSP00000439495.2:n.1168+46G=
NM_001166107.1:c.1168+46G= , LRG_447t2:c.1168+46G= NP_001159579.1:n.1168+46G=
NM_005518.3:c.1294+46G= , LRG_447t1:c.1294+46G= NP_005509.1:n.1294+46G=
XM_011541313.1:c.1129+46G= XP_011539615.1:n.1129+46G=
XM_011541313.2:c.1129+46G= XP_011539615.1:n.1129+46G=
NM_005518.4:c.1294+46G= MANE Select NP_005509.1:n.1294+46G=