Canonical Allele Identifier: CA341863271
Gene: HMGCS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119759987G>T , CM000663.2:g.119759987G>T GRCh38
NC_000001.10:g.120302610G>T , CM000663.1:g.120302610G>T GRCh37
NC_000001.9:g.120104133G>T NCBI36
NG_013348.1:g.13946C>A , LRG_447:g.13946C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369406.8:c.562C>A MANE Select ENSP00000358414.3:p.Arg188Ser
ENST00000369406.7:c.562C>A ENSP00000358414.3:p.Arg188Ser
ENST00000476640.1:n.458C>A
ENST00000544913.2:c.560-705C>A ENSP00000439495.2:n.560-705C>A
NM_001166107.1:c.560-705C>A , LRG_447t2:c.560-705C>A NP_001159579.1:n.560-705C>A
NM_005518.3:c.562C>A , LRG_447t1:c.562C>A NP_005509.1:p.Arg188Ser
XM_011541313.1:c.562C>A XP_011539615.1:p.Arg188Ser
XM_011541313.2:c.562C>A XP_011539615.1:p.Arg188Ser
NM_005518.4:c.562C>A MANE Select NP_005509.1:p.Arg188Ser