Canonical Allele Identifier: CA16602841

Gene: ERBB2

Linked Data

• ClinVar Variation Id: 376403
• ClinVar RCV Id: RCV000419212 ; RCV000420244 ; RCV000430490 ; RCV000431162 ; RCV000441427
• dbSNP Id: rs121913468
• COSMIC: COSM1302747
• MyVariant Identifiers: chr17:g.37880261G>A (hg19) ; chr17:g.39724008G>A (hg38)
• PubMed: PMID:26619011

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39724008G>A , CM000679.2:g.39724008G>A	GRCh38
NC_000017.10:g.37880261G>A , CM000679.1:g.37880261G>A	GRCh37
NC_000017.9:g.35133787G>A	NCBI36
NG_007503.1:g.40869G>A , LRG_724:g.40869G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000269571.10:c.2305G>A MANE Select	ENSP00000269571.4:p.Asp769Asn
ENST00000269571.9:c.2305G>A	ENSP00000269571.4:p.Asp769Asn
ENST00000406381.6:c.2215G>A	ENSP00000385185.2:p.Asp739Asn
ENST00000445658.6:c.1477G>A	ENSP00000404047.2:p.Asp493Asn
ENST00000541774.5:c.2260G>A	ENSP00000446466.1:p.Asp754Asn
ENST00000578373.5:c.*2095G>A	ENSP00000463427.1:n.*2095G>A
ENST00000580074.1:c.411G>A
ENST00000583038.5:n.3439G>A
ENST00000584450.5:c.2305G>A	ENSP00000463714.1:p.Asp769Asn
ENST00000584601.5:c.2215G>A	ENSP00000462438.1:p.Asp739Asn
NM_001005862.2:c.2215G>A , LRG_724t1:c.2215G>A	NP_001005862.1:p.Asp739Asn
NM_001289936.1:c.2260G>A , LRG_724t4:c.2260G>A	NP_001276865.1:p.Asp754Asn
NM_001289937.1:c.2305G>A	NP_001276866.1:p.Asp769Asn
NM_004448.3:c.2305G>A , LRG_724t2:c.2305G>A	NP_004439.2:p.Asp769Asn
NR_110535.1:n.2629G>A
XM_024450641.1:c.2443G>A	XP_024306409.1:p.Asp815Asn
XM_024450642.1:c.2398G>A	XP_024306410.1:p.Asp800Asn
XM_024450643.1:c.2353G>A	XP_024306411.1:p.Asp785Asn
NM_001005862.3:c.2215G>A	NP_001005862.1:p.Asp739Asn
NM_001289936.2:c.2260G>A	NP_001276865.1:p.Asp754Asn
NM_001289937.2:c.2305G>A	NP_001276866.1:p.Asp769Asn
NM_001382782.1:c.2215G>A	NP_001369711.1:p.Asp739Asn
NM_001382783.1:c.2215G>A	NP_001369712.1:p.Asp739Asn
NM_001382784.1:c.2422G>A	NP_001369713.1:p.Asp808Asn
NM_001382785.1:c.2407G>A	NP_001369714.1:p.Asp803Asn
NM_001382786.1:c.2386G>A	NP_001369715.1:p.Asp796Asn
NM_001382787.1:c.2380G>A	NP_001369716.1:p.Asp794Asn
NM_001382788.1:c.2335G>A	NP_001369717.1:p.Asp779Asn
NM_001382789.1:c.2326G>A	NP_001369718.1:p.Asp776Asn
NM_001382790.1:c.2302G>A	NP_001369719.1:p.Asp768Asn
NM_001382791.1:c.2296G>A	NP_001369720.1:p.Asp766Asn
NM_001382792.1:c.2269G>A	NP_001369721.1:p.Asp757Asn
NM_001382793.1:c.2263G>A	NP_001369722.1:p.Asp755Asn
NM_001382794.1:c.2263G>A	NP_001369723.1:p.Asp755Asn
NM_001382795.1:c.2257G>A	NP_001369724.1:p.Asp753Asn
NM_001382796.1:c.2305G>A	NP_001369725.1:p.Asp769Asn
NM_001382797.1:c.2208+348G>A	NP_001369726.1:n.2208+348G>A
NM_001382798.1:c.2305G>A	NP_001369727.1:p.Asp769Asn
NM_001382799.1:c.2125G>A	NP_001369728.1:p.Asp709Asn
NM_001382800.1:c.2305G>A	NP_001369729.1:p.Asp769Asn
NM_001382801.1:c.2257G>A	NP_001369730.1:p.Asp753Asn
NM_001382802.1:c.2047G>A	NP_001369731.1:p.Asp683Asn
NM_001382803.1:c.2263G>A	NP_001369732.1:p.Asp755Asn
NM_001382804.1:c.1477G>A	NP_001369733.1:p.Asp493Asn
NM_001382805.1:c.2208+348G>A	NP_001369734.1:n.2208+348G>A
NM_001382806.1:c.1267G>A	NP_001369735.1:p.Asp423Asn
NM_004448.4:c.2305G>A MANE Select	NP_004439.2:p.Asp769Asn
NR_110535.2:n.2543G>A