Canonical Allele Identifier: CA8534278

Gene: ERBB2

Linked Data

• ClinVar Variation Id: 838677
• ClinVar RCV Id: RCV001040267
• dbSNP Id: rs772054394
• ExAC: 17:37880988 G / A
• gnomAD v2: 17-37880988-G-A
• gnomAD v3: 17-39724735-G-A
• gnomAD v4: 17-39724735-G-A
• COSMIC: COSM5731177 ; COSM5731178
• MyVariant Identifiers: chr17:g.37880988G>A (hg19) ; chr17:g.39724735G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39724735G>A , CM000679.2:g.39724735G>A	GRCh38
NC_000017.10:g.37880988G>A , CM000679.1:g.37880988G>A	GRCh37
NC_000017.9:g.35134514G>A	NCBI36
NG_007503.1:g.41596G>A , LRG_724:g.41596G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.2317G>A MANE Select	ENSP00000269571.4:p.Val773Met
ENST00000269571.9:c.2317G>A	ENSP00000269571.4:p.Val773Met
ENST00000406381.6:c.2227G>A	ENSP00000385185.2:p.Val743Met
ENST00000445658.6:c.1489G>A	ENSP00000404047.2:p.Val497Met
ENST00000541774.5:c.2272G>A	ENSP00000446466.1:p.Val758Met
ENST00000578373.5:c.*2107G>A	ENSP00000463427.1:n.*2107G>A
ENST00000580074.1:c.423G>A
ENST00000583038.5:n.3451G>A
ENST00000584450.5:c.2317G>A	ENSP00000463714.1:p.Val773Met
ENST00000584601.5:c.2227G>A	ENSP00000462438.1:p.Val743Met
NM_001005862.2:c.2227G>A , LRG_724t1:c.2227G>A	NP_001005862.1:p.Val743Met
NM_001289936.1:c.2272G>A , LRG_724t4:c.2272G>A	NP_001276865.1:p.Val758Met
NM_001289937.1:c.2317G>A	NP_001276866.1:p.Val773Met
NM_004448.3:c.2317G>A , LRG_724t2:c.2317G>A	NP_004439.2:p.Val773Met
NR_110535.1:n.2641G>A
XM_024450641.1:c.2455G>A	XP_024306409.1:p.Val819Met
XM_024450642.1:c.2410G>A	XP_024306410.1:p.Val804Met
XM_024450643.1:c.2365G>A	XP_024306411.1:p.Val789Met
NM_001005862.3:c.2227G>A	NP_001005862.1:p.Val743Met
NM_001289936.2:c.2272G>A	NP_001276865.1:p.Val758Met
NM_001289937.2:c.2317G>A	NP_001276866.1:p.Val773Met
NM_001382782.1:c.2227G>A	NP_001369711.1:p.Val743Met
NM_001382783.1:c.2227G>A	NP_001369712.1:p.Val743Met
NM_001382784.1:c.2434G>A	NP_001369713.1:p.Val812Met
NM_001382785.1:c.2419G>A	NP_001369714.1:p.Val807Met
NM_001382786.1:c.2398G>A	NP_001369715.1:p.Val800Met
NM_001382787.1:c.2392G>A	NP_001369716.1:p.Val798Met
NM_001382788.1:c.2347G>A	NP_001369717.1:p.Val783Met
NM_001382789.1:c.2338G>A	NP_001369718.1:p.Val780Met
NM_001382790.1:c.2314G>A	NP_001369719.1:p.Val772Met
NM_001382791.1:c.2308G>A	NP_001369720.1:p.Val770Met
NM_001382792.1:c.2281G>A	NP_001369721.1:p.Val761Met
NM_001382793.1:c.2275G>A	NP_001369722.1:p.Val759Met
NM_001382794.1:c.2275G>A	NP_001369723.1:p.Val759Met
NM_001382795.1:c.2269G>A	NP_001369724.1:p.Val757Met
NM_001382796.1:c.2317G>A	NP_001369725.1:p.Val773Met
NM_001382797.1:c.2218G>A	NP_001369726.1:p.Val740Met
NM_001382798.1:c.2317G>A	NP_001369727.1:p.Val773Met
NM_001382799.1:c.2137G>A	NP_001369728.1:p.Val713Met
NM_001382800.1:c.2308-314G>A	NP_001369729.1:n.2308-314G>A
NM_001382801.1:c.2269G>A	NP_001369730.1:p.Val757Met
NM_001382802.1:c.2059G>A	NP_001369731.1:p.Val687Met
NM_001382803.1:c.2275G>A	NP_001369732.1:p.Val759Met
NM_001382804.1:c.1489G>A	NP_001369733.1:p.Val497Met
NM_001382805.1:c.2208+1075G>A	NP_001369734.1:n.2208+1075G>A
NM_001382806.1:c.1279G>A	NP_001369735.1:p.Val427Met
NM_004448.4:c.2317G>A MANE Select	NP_004439.2:p.Val773Met
NR_110535.2:n.2555G>A