Canonical Allele Identifier: CA1148429241
Gene: HMGCS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119753297G= , CM000663.2:g.119753297G= GRCh38
NC_000001.10:g.120295920G= , CM000663.1:g.120295920G= GRCh37
NC_000001.9:g.120097443G= NCBI36
NG_013348.1:g.20636C= , LRG_447:g.20636C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000369406.8:c.1277C= MANE Select ENSP00000358414.3:p.Ser426=
ENST00000369406.7:c.1277C= ENSP00000358414.3:p.Ser426=
ENST00000544913.2:c.1151C= ENSP00000439495.2:p.Ser384=
NM_001166107.1:c.1151C= , LRG_447t2:c.1151C= NP_001159579.1:p.Ser384=
NM_005518.3:c.1277C= , LRG_447t1:c.1277C= NP_005509.1:p.Ser426=
XM_011541313.1:c.1112C= XP_011539615.1:p.Ser371=
XM_011541313.2:c.1112C= XP_011539615.1:p.Ser371=
NM_005518.4:c.1277C= MANE Select NP_005509.1:p.Ser426=