Canonical Allele Identifier: CA2963249909
Community Standard Title: NM_004448.4(ERBB2):c.2186dup (p.Ala730ArgfsTer13)
Gene: ERBB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39723638dup , CM000679.2:g.39723638dup GRCh38
NC_000017.10:g.37879891dup , CM000679.1:g.37879891dup GRCh37
NC_000017.9:g.35133417dup NCBI36
NG_007503.1:g.40499dup , LRG_724:g.40499dup

Transcript Alleles

HGVS Amino-acid Change
NM_004448.4:c.2186dup MANE Select NP_004439.2:p.Ala730ArgfsTer13
ENST00000269571.10:c.2186dup MANE Select ENSP00000269571.4:p.Ala730ArgfsTer13
NM_001005862.2:c.2096dup , LRG_724t1:c.2096dup NP_001005862.1:p.Ala700ArgfsTer13
NM_001005862.3:c.2096dup NP_001005862.1:p.Ala700ArgfsTer13
NM_001289936.1:c.2141dup , LRG_724t4:c.2141dup NP_001276865.1:p.Ala715ArgfsTer13
NM_001289936.2:c.2141dup NP_001276865.1:p.Ala715ArgfsTer13
NM_001289937.1:c.2186dup NP_001276866.1:p.Ala730ArgfsTer13
NM_001289937.2:c.2186dup NP_001276866.1:p.Ala730ArgfsTer13
NM_001382782.1:c.2096dup NP_001369711.1:p.Ala700ArgfsTer13
NM_001382783.1:c.2096dup NP_001369712.1:p.Ala700ArgfsTer13
NM_001382784.1:c.2303dup NP_001369713.1:p.Ala769ArgfsTer13
NM_001382785.1:c.2288dup NP_001369714.1:p.Ala764ArgfsTer13
NM_001382786.1:c.2289+14dup NP_001369715.1:n.2289+14dup
NM_001382787.1:c.2261dup NP_001369716.1:p.Ala755ArgfsTer13
NM_001382788.1:c.2216dup NP_001369717.1:p.Ala740ArgfsTer13
NM_001382789.1:c.2207dup NP_001369718.1:p.Ala737ArgfsTer13
NM_001382790.1:c.2183dup NP_001369719.1:p.Ala729ArgfsTer13
NM_001382791.1:c.2177dup NP_001369720.1:p.Ala727ArgfsTer13
NM_001382792.1:c.2172+14dup NP_001369721.1:n.2172+14dup
NM_001382793.1:c.2166+20dup NP_001369722.1:n.2166+20dup
NM_001382794.1:c.2144dup NP_001369723.1:p.Ala716ArgfsTer13
NM_001382795.1:c.2138dup NP_001369724.1:p.Ala714ArgfsTer13
NM_001382796.1:c.2186dup NP_001369725.1:p.Ala730ArgfsTer13
NM_001382797.1:c.2186dup NP_001369726.1:p.Ala730ArgfsTer?
NM_001382798.1:c.2186dup NP_001369727.1:p.Ala730ArgfsTer13
NM_001382799.1:c.2006dup NP_001369728.1:p.Ala670ArgfsTer13
NM_001382800.1:c.2186dup NP_001369729.1:p.Ala730ArgfsTer13
NM_001382801.1:c.2138dup NP_001369730.1:p.Ala714ArgfsTer13
NM_001382802.1:c.1928dup NP_001369731.1:p.Ala644ArgfsTer13
NM_001382803.1:c.2166+20dup NP_001369732.1:n.2166+20dup
NM_001382804.1:c.1358dup NP_001369733.1:p.Ala454ArgfsTer13
NM_001382805.1:c.2186dup NP_001369734.1:p.Ala730ArgfsTer21
NM_001382806.1:c.1223-326dup NP_001369735.1:n.1223-326dup
NM_004448.3:c.2186dup , LRG_724t2:c.2186dup NP_004439.2:p.Ala730ArgfsTer13
NR_110535.1:n.2510dup
NR_110535.2:n.2424dup
ENST00000269571.9:c.2186dup ENSP00000269571.4:p.Ala730ArgfsTer13
ENST00000406381.6:c.2096dup ENSP00000385185.2:p.Ala700ArgfsTer13
ENST00000445658.6:c.1358dup ENSP00000404047.2:p.Ala454ArgfsTer13
ENST00000541774.5:c.2141dup ENSP00000446466.1:p.Ala715ArgfsTer13
ENST00000578373.5:c.*1976dup ENSP00000463427.1:n.*1976dup
ENST00000578630.1:n.795dup
ENST00000580074.1:c.292dup
ENST00000582818.5:c.490+14dup
ENST00000583038.5:n.3320dup
ENST00000584450.5:c.2186dup ENSP00000463714.1:p.Ala730ArgfsTer13
ENST00000584601.5:c.2096dup ENSP00000462438.1:p.Ala700ArgfsTer13
XM_024450641.1:c.2324dup XP_024306409.1:p.Ala776ArgfsTer13
XM_024450642.1:c.2279dup XP_024306410.1:p.Ala761ArgfsTer13
XM_024450643.1:c.2234dup XP_024306411.1:p.Ala746ArgfsTer13