Canonical Allele Identifier: CA1148869107
Gene: HMGCS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119753303C= , CM000663.2:g.119753303C= GRCh38
NC_000001.10:g.120295926C= , CM000663.1:g.120295926C= GRCh37
NC_000001.9:g.120097449C= NCBI36
NG_013348.1:g.20630G= , LRG_447:g.20630G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000369406.8:c.1271G= MANE Select ENSP00000358414.3:p.Arg424=
ENST00000369406.7:c.1271G= ENSP00000358414.3:p.Arg424=
ENST00000544913.2:c.1145G= ENSP00000439495.2:p.Arg382=
NM_001166107.1:c.1145G= , LRG_447t2:c.1145G= NP_001159579.1:p.Arg382=
NM_005518.3:c.1271G= , LRG_447t1:c.1271G= NP_005509.1:p.Arg424=
XM_011541313.1:c.1106G= XP_011539615.1:p.Arg369=
XM_011541313.2:c.1106G= XP_011539615.1:p.Arg369=
NM_005518.4:c.1271G= MANE Select NP_005509.1:p.Arg424=