Canonical Allele Identifier: CA420189290
Gene: NOTCH2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.120458170_120458171insA (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119915549dup , CM000663.2:g.119915549dup GRCh38
NC_000001.10:g.120458172dup , CM000663.1:g.120458172dup GRCh37
NC_000001.9:g.120259695dup NCBI36
NG_008163.1:g.159106dup

Transcript Alleles

HGVS Amino-acid change
ENST00000256646.7:c.7174dup MANE Select ENSP00000256646.2:p.Tyr2392LeufsTer8
ENST00000256646.6:c.7174dup ENSP00000256646.2:p.Tyr2392LeufsTer8
NM_024408.3:c.7174dup NP_077719.2:p.Tyr2392LeufsTer8
XM_005270901.2:c.7057dup XP_005270958.1:p.Tyr2353LeufsTer8
XM_011541519.1:c.7162dup XP_011539821.1:p.Tyr2388LeufsTer8
XM_011541520.1:c.7057dup XP_011539822.1:p.Tyr2353LeufsTer8
NM_024408.4:c.7174dup MANE Select NP_077719.2:p.Tyr2392LeufsTer8
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