Canonical Allele Identifier: CA341862789
Gene: HMGCS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119759876C>A , CM000663.2:g.119759876C>A GRCh38
NC_000001.10:g.120302499C>A , CM000663.1:g.120302499C>A GRCh37
NC_000001.9:g.120104022C>A NCBI36
NG_013348.1:g.14057G>T , LRG_447:g.14057G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369406.8:c.673G>T MANE Select ENSP00000358414.3:p.Ala225Ser
ENST00000369406.7:c.673G>T ENSP00000358414.3:p.Ala225Ser
ENST00000476640.1:n.569G>T
ENST00000544913.2:c.560-594G>T ENSP00000439495.2:n.560-594G>T
NM_001166107.1:c.560-594G>T , LRG_447t2:c.560-594G>T NP_001159579.1:n.560-594G>T
NM_005518.3:c.673G>T , LRG_447t1:c.673G>T NP_005509.1:p.Ala225Ser
XM_011541313.1:c.673G>T XP_011539615.1:p.Ala225Ser
XM_011541313.2:c.673G>T XP_011539615.1:p.Ala225Ser
NM_005518.4:c.673G>T MANE Select NP_005509.1:p.Ala225Ser