Canonical Allele Identifier: CA402477034
Gene: RIT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.42923653C>A , CM000680.2:g.42923653C>A GRCh38
NC_000018.9:g.40503618C>A , CM000680.1:g.40503618C>A GRCh37
NC_000018.8:g.38757616C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_002930.4:c.345G>T MANE Select NP_002921.1:p.Glu115Asp
ENST00000326695.10:c.345G>T MANE Select ENSP00000321805.4:p.Glu115Asp
NM_001272077.1:c.345G>T NP_001259006.1:p.Glu115Asp
NM_001272077.2:c.345G>T NP_001259006.1:p.Glu115Asp
NM_002930.3:c.345G>T NP_002921.1:p.Glu115Asp
ENST00000326695.9:c.345G>T ENSP00000321805.4:p.Glu115Asp
ENST00000589109.5:c.345G>T ENSP00000467217.1:p.Glu115Asp
ENST00000590910.1:c.407G>T ENSP00000466620.1:p.Ser136Ile
ENST00000594852.1:n.133G>T
ENST00000650392.1:c.407G>T ENSP00000497708.1:p.Ser136Ile