Canonical Allele Identifier: CA16602842

Gene: ERBB2

Linked Data

• ClinVar Variation Id: 376404
• ClinVar RCV Id: RCV000421368 ; RCV000422582 ; RCV000431643 ; RCV000432868 ; RCV000438379 ; RCV000439036 ; RCV000443340
• dbSNP Id: rs1057519890
• COSMIC: COSM1205571 ; COSM5195240
• MyVariant Identifiers: chr17:g.37880219T>A (hg19) ; chr17:g.39723966T>A (hg38)
• PubMed: PMID:26619011

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39723966T>A , CM000679.2:g.39723966T>A	GRCh38
NC_000017.10:g.37880219T>A , CM000679.1:g.37880219T>A	GRCh37
NC_000017.9:g.35133745T>A	NCBI36
NG_007503.1:g.40827T>A , LRG_724:g.40827T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000269571.10:c.2263T>A MANE Select	ENSP00000269571.4:p.Leu755Met
ENST00000269571.9:c.2263T>A	ENSP00000269571.4:p.Leu755Met
ENST00000406381.6:c.2173T>A	ENSP00000385185.2:p.Leu725Met
ENST00000445658.6:c.1435T>A	ENSP00000404047.2:p.Leu479Met
ENST00000541774.5:c.2218T>A	ENSP00000446466.1:p.Leu740Met
ENST00000578373.5:c.*2053T>A	ENSP00000463427.1:n.*2053T>A
ENST00000578630.1:n.872T>A
ENST00000580074.1:c.369T>A
ENST00000583038.5:n.3397T>A
ENST00000584450.5:c.2263T>A	ENSP00000463714.1:p.Leu755Met
ENST00000584601.5:c.2173T>A	ENSP00000462438.1:p.Leu725Met
NM_001005862.2:c.2173T>A , LRG_724t1:c.2173T>A	NP_001005862.1:p.Leu725Met
NM_001289936.1:c.2218T>A , LRG_724t4:c.2218T>A	NP_001276865.1:p.Leu740Met
NM_001289937.1:c.2263T>A	NP_001276866.1:p.Leu755Met
NM_004448.3:c.2263T>A , LRG_724t2:c.2263T>A	NP_004439.2:p.Leu755Met
NR_110535.1:n.2587T>A
XM_024450641.1:c.2401T>A	XP_024306409.1:p.Leu801Met
XM_024450642.1:c.2356T>A	XP_024306410.1:p.Leu786Met
XM_024450643.1:c.2311T>A	XP_024306411.1:p.Leu771Met
NM_001005862.3:c.2173T>A	NP_001005862.1:p.Leu725Met
NM_001289936.2:c.2218T>A	NP_001276865.1:p.Leu740Met
NM_001289937.2:c.2263T>A	NP_001276866.1:p.Leu755Met
NM_001382782.1:c.2173T>A	NP_001369711.1:p.Leu725Met
NM_001382783.1:c.2173T>A	NP_001369712.1:p.Leu725Met
NM_001382784.1:c.2380T>A	NP_001369713.1:p.Leu794Met
NM_001382785.1:c.2365T>A	NP_001369714.1:p.Leu789Met
NM_001382786.1:c.2344T>A	NP_001369715.1:p.Leu782Met
NM_001382787.1:c.2338T>A	NP_001369716.1:p.Leu780Met
NM_001382788.1:c.2293T>A	NP_001369717.1:p.Leu765Met
NM_001382789.1:c.2284T>A	NP_001369718.1:p.Leu762Met
NM_001382790.1:c.2260T>A	NP_001369719.1:p.Leu754Met
NM_001382791.1:c.2254T>A	NP_001369720.1:p.Leu752Met
NM_001382792.1:c.2227T>A	NP_001369721.1:p.Leu743Met
NM_001382793.1:c.2221T>A	NP_001369722.1:p.Leu741Met
NM_001382794.1:c.2221T>A	NP_001369723.1:p.Leu741Met
NM_001382795.1:c.2215T>A	NP_001369724.1:p.Leu739Met
NM_001382796.1:c.2263T>A	NP_001369725.1:p.Leu755Met
NM_001382797.1:c.2208+306T>A	NP_001369726.1:n.2208+306T>A
NM_001382798.1:c.2263T>A	NP_001369727.1:p.Leu755Met
NM_001382799.1:c.2083T>A	NP_001369728.1:p.Leu695Met
NM_001382800.1:c.2263T>A	NP_001369729.1:p.Leu755Met
NM_001382801.1:c.2215T>A	NP_001369730.1:p.Leu739Met
NM_001382802.1:c.2005T>A	NP_001369731.1:p.Leu669Met
NM_001382803.1:c.2221T>A	NP_001369732.1:p.Leu741Met
NM_001382804.1:c.1435T>A	NP_001369733.1:p.Leu479Met
NM_001382805.1:c.2208+306T>A	NP_001369734.1:n.2208+306T>A
NM_001382806.1:c.1225T>A	NP_001369735.1:p.Leu409Met
NM_004448.4:c.2263T>A MANE Select	NP_004439.2:p.Leu755Met
NR_110535.2:n.2501T>A