Canonical Allele Identifier: CA645528287
Gene: NOTCH2 HGNC NCBI

Linked Data

COSMIC: COSM5752286
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119915464_119915465del , CM000663.2:g.119915464_119915465del GRCh38
NC_000001.10:g.120458087_120458088del , CM000663.1:g.120458087_120458088del GRCh37
NC_000001.9:g.120259610_120259611del NCBI36
NG_008163.1:g.159191_159192del

Transcript Alleles

HGVS Amino-acid change
ENST00000256646.7:c.7259_7260del MANE Select ENSP00000256646.2:p.Glu2420ValfsTer3
ENST00000256646.6:c.7259_7260del ENSP00000256646.2:p.Glu2420ValfsTer3
NM_024408.3:c.7259_7260del NP_077719.2:p.Glu2420ValfsTer3
XM_005270901.2:c.7142_7143del XP_005270958.1:p.Glu2381ValfsTer3
XM_011541519.1:c.7247_7248del XP_011539821.1:p.Glu2416ValfsTer3
XM_011541520.1:c.7142_7143del XP_011539822.1:p.Glu2381ValfsTer3
NM_024408.4:c.7259_7260del MANE Select NP_077719.2:p.Glu2420ValfsTer3
Search 100 bp 5'
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