Canonical Allele Identifier: CA1192442687
Gene: HMGCS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119759938T= , CM000663.2:g.119759938T= GRCh38
NC_000001.10:g.120302561T= , CM000663.1:g.120302561T= GRCh37
NC_000001.9:g.120104084T= NCBI36
NG_013348.1:g.13995A= , LRG_447:g.13995A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000369406.8:c.611A= MANE Select ENSP00000358414.3:p.Asn204=
ENST00000369406.7:c.611A= ENSP00000358414.3:p.Asn204=
ENST00000476640.1:n.507A=
ENST00000544913.2:c.560-656A= ENSP00000439495.2:n.560-656A=
NM_001166107.1:c.560-656A= , LRG_447t2:c.560-656A= NP_001159579.1:n.560-656A=
NM_005518.3:c.611A= , LRG_447t1:c.611A= NP_005509.1:p.Asn204=
XM_011541313.1:c.611A= XP_011539615.1:p.Asn204=
XM_011541313.2:c.611A= XP_011539615.1:p.Asn204=
NM_005518.4:c.611A= MANE Select NP_005509.1:p.Asn204=