Canonical Allele Identifier: CA1037837
Gene: HMGCS2 HGNC NCBI

Linked Data

dbSNP Id: rs755037311

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119759918C>A , CM000663.2:g.119759918C>A GRCh38
NC_000001.10:g.120302541C>A , CM000663.1:g.120302541C>A GRCh37
NC_000001.9:g.120104064C>A NCBI36
NG_013348.1:g.14015G>T , LRG_447:g.14015G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369406.8:c.631G>T MANE Select ENSP00000358414.3:p.Ala211Ser
ENST00000369406.7:c.631G>T ENSP00000358414.3:p.Ala211Ser
ENST00000476640.1:n.527G>T
ENST00000544913.2:c.560-636G>T ENSP00000439495.2:n.560-636G>T
NM_001166107.1:c.560-636G>T , LRG_447t2:c.560-636G>T NP_001159579.1:n.560-636G>T
NM_005518.3:c.631G>T , LRG_447t1:c.631G>T NP_005509.1:p.Ala211Ser
XM_011541313.1:c.631G>T XP_011539615.1:p.Ala211Ser
XM_011541313.2:c.631G>T XP_011539615.1:p.Ala211Ser
NM_005518.4:c.631G>T MANE Select NP_005509.1:p.Ala211Ser