Canonical Allele Identifier: CA1192442568
Gene: HMGCS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119759827G= , CM000663.2:g.119759827G= GRCh38
NC_000001.10:g.120302450G= , CM000663.1:g.120302450G= GRCh37
NC_000001.9:g.120103973G= NCBI36
NG_013348.1:g.14106C= , LRG_447:g.14106C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000369406.8:c.685+37C= MANE Select ENSP00000358414.3:n.685+37C=
ENST00000369406.7:c.685+37C= ENSP00000358414.3:n.685+37C=
ENST00000476640.1:n.581+37C=
ENST00000544913.2:c.560-545C= ENSP00000439495.2:n.560-545C=
NM_001166107.1:c.560-545C= , LRG_447t2:c.560-545C= NP_001159579.1:n.560-545C=
NM_005518.3:c.685+37C= , LRG_447t1:c.685+37C= NP_005509.1:n.685+37C=
XM_011541313.1:c.685+37C= XP_011539615.1:n.685+37C=
XM_011541313.2:c.685+37C= XP_011539615.1:n.685+37C=
NM_005518.4:c.685+37C= MANE Select NP_005509.1:n.685+37C=