Canonical Allele Identifier: CA341862874
Gene: HMGCS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119759899A>C , CM000663.2:g.119759899A>C GRCh38
NC_000001.10:g.120302522A>C , CM000663.1:g.120302522A>C GRCh37
NC_000001.9:g.120104045A>C NCBI36
NG_013348.1:g.14034T>G , LRG_447:g.14034T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369406.8:c.650T>G MANE Select ENSP00000358414.3:p.Leu217Arg
ENST00000369406.7:c.650T>G ENSP00000358414.3:p.Leu217Arg
ENST00000476640.1:n.546T>G
ENST00000544913.2:c.560-617T>G ENSP00000439495.2:n.560-617T>G
NM_001166107.1:c.560-617T>G , LRG_447t2:c.560-617T>G NP_001159579.1:n.560-617T>G
NM_005518.3:c.650T>G , LRG_447t1:c.650T>G NP_005509.1:p.Leu217Arg
XM_011541313.1:c.650T>G XP_011539615.1:p.Leu217Arg
XM_011541313.2:c.650T>G XP_011539615.1:p.Leu217Arg
NM_005518.4:c.650T>G MANE Select NP_005509.1:p.Leu217Arg