Canonical Allele Identifier: CA135378

Gene: ERBB2

Linked Data

• ClinVar Variation Id: 44988
• ClinVar RCV Id: RCV000038127 ; RCV000431743
• dbSNP Id: rs397516979
• COSMIC: COSM12553
• MyVariant Identifiers: chr17:g.37880997_37880998insTGT (hg19) ; chr17:g.39724744_39724745insTGT (hg38)
• PubMed: PMID:15753357 ; PMID:16863509 ; PMID:25157968

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39724744_39724745insTGT , CM000679.2:g.39724744_39724745insTGT	GRCh38
NC_000017.10:g.37880997_37880998insTGT , CM000679.1:g.37880997_37880998insTGT	GRCh37
NC_000017.9:g.35134523_35134524insTGT	NCBI36
NG_007503.1:g.41605_41606insTGT , LRG_724:g.41605_41606insTGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000269571.10:c.2326_2327insTGT MANE Select	ENSP00000269571.4:p.Gly776delinsValCys
ENST00000269571.9:c.2326_2327insTGT	ENSP00000269571.4:p.Gly776delinsValCys
ENST00000406381.6:c.2236_2237insTGT	ENSP00000385185.2:p.Gly746delinsValCys
ENST00000445658.6:c.1498_1499insTGT	ENSP00000404047.2:p.Gly500delinsValCys
ENST00000541774.5:c.2281_2282insTGT	ENSP00000446466.1:p.Gly761delinsValCys
ENST00000578373.5:c.*2116_*2117insTGT	ENSP00000463427.1:n.*2116_*2117insTGT
ENST00000580074.1:c.432_433insTGT
ENST00000583038.5:n.3460_3461insTGT
ENST00000584450.5:c.2326_2327insTGT	ENSP00000463714.1:p.Gly776delinsValCys
ENST00000584601.5:c.2236_2237insTGT	ENSP00000462438.1:p.Gly746delinsValCys
NM_001005862.2:c.2236_2237insTGT , LRG_724t1:c.2236_2237insTGT	NP_001005862.1:p.Gly746delinsValCys
NM_001289936.1:c.2281_2282insTGT , LRG_724t4:c.2281_2282insTGT	NP_001276865.1:p.Gly761delinsValCys
NM_001289937.1:c.2326_2327insTGT	NP_001276866.1:p.Gly776delinsValCys
NM_004448.3:c.2326_2327insTGT , LRG_724t2:c.2326_2327insTGT	NP_004439.2:p.Gly776delinsValCys
NR_110535.1:n.2650_2651insTGT
XM_024450641.1:c.2464_2465insTGT	XP_024306409.1:p.Gly822delinsValCys
XM_024450642.1:c.2419_2420insTGT	XP_024306410.1:p.Gly807delinsValCys
XM_024450643.1:c.2374_2375insTGT	XP_024306411.1:p.Gly792delinsValCys
NM_001005862.3:c.2236_2237insTGT	NP_001005862.1:p.Gly746delinsValCys
NM_001289936.2:c.2281_2282insTGT	NP_001276865.1:p.Gly761delinsValCys
NM_001289937.2:c.2326_2327insTGT	NP_001276866.1:p.Gly776delinsValCys
NM_001382782.1:c.2236_2237insTGT	NP_001369711.1:p.Gly746delinsValCys
NM_001382783.1:c.2236_2237insTGT	NP_001369712.1:p.Gly746delinsValCys
NM_001382784.1:c.2443_2444insTGT	NP_001369713.1:p.Gly815delinsValCys
NM_001382785.1:c.2428_2429insTGT	NP_001369714.1:p.Gly810delinsValCys
NM_001382786.1:c.2407_2408insTGT	NP_001369715.1:p.Gly803delinsValCys
NM_001382787.1:c.2401_2402insTGT	NP_001369716.1:p.Gly801delinsValCys
NM_001382788.1:c.2356_2357insTGT	NP_001369717.1:p.Gly786delinsValCys
NM_001382789.1:c.2347_2348insTGT	NP_001369718.1:p.Gly783delinsValCys
NM_001382790.1:c.2323_2324insTGT	NP_001369719.1:p.Gly775delinsValCys
NM_001382791.1:c.2317_2318insTGT	NP_001369720.1:p.Gly773delinsValCys
NM_001382792.1:c.2290_2291insTGT	NP_001369721.1:p.Gly764delinsValCys
NM_001382793.1:c.2284_2285insTGT	NP_001369722.1:p.Gly762delinsValCys
NM_001382794.1:c.2284_2285insTGT	NP_001369723.1:p.Gly762delinsValCys
NM_001382795.1:c.2278_2279insTGT	NP_001369724.1:p.Gly760delinsValCys
NM_001382796.1:c.2326_2327insTGT	NP_001369725.1:p.Gly776delinsValCys
NM_001382797.1:c.2227_2228insTGT	NP_001369726.1:p.Gly743delinsValCys
NM_001382798.1:c.2326_2327insTGT	NP_001369727.1:p.Gly776delinsValCys
NM_001382799.1:c.2146_2147insTGT	NP_001369728.1:p.Gly716delinsValCys
NM_001382800.1:c.2308-305_2308-304insTGT	NP_001369729.1:n.2308-305_2308-304insTGT
NM_001382801.1:c.2278_2279insTGT	NP_001369730.1:p.Gly760delinsValCys
NM_001382802.1:c.2068_2069insTGT	NP_001369731.1:p.Gly690delinsValCys
NM_001382803.1:c.2284_2285insTGT	NP_001369732.1:p.Gly762delinsValCys
NM_001382804.1:c.1498_1499insTGT	NP_001369733.1:p.Gly500delinsValCys
NM_001382805.1:c.2208+1084_2208+1085insTGT	NP_001369734.1:n.2208+1084_2208+1085insTG...
NM_001382806.1:c.1288_1289insTGT	NP_001369735.1:p.Gly430delinsValCys
NM_004448.4:c.2326_2327insTGT MANE Select	NP_004439.2:p.Gly776delinsValCys
NR_110535.2:n.2564_2565insTGT