Canonical Allele Identifier: CA8534322

Gene: ERBB2

Linked Data

• dbSNP Id: rs747967722
• ExAC: 17:37881327 G / A
• gnomAD v2: 17-37881327-G-A
• gnomAD v4: 17-39725074-G-A
• MyVariant Identifiers: chr17:g.37881327G>A (hg19) ; chr17:g.39725074G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39725074G>A , CM000679.2:g.39725074G>A	GRCh38
NC_000017.10:g.37881327G>A , CM000679.1:g.37881327G>A	GRCh37
NC_000017.9:g.35134853G>A	NCBI36
NG_007503.1:g.41935G>A , LRG_724:g.41935G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.2519G>A MANE Select	ENSP00000269571.4:p.Arg840Gln
ENST00000269571.9:c.2519G>A	ENSP00000269571.4:p.Arg840Gln
ENST00000406381.6:c.2429G>A	ENSP00000385185.2:p.Arg810Gln
ENST00000445658.6:c.1691G>A	ENSP00000404047.2:p.Arg564Gln
ENST00000541774.5:c.2474G>A	ENSP00000446466.1:p.Arg825Gln
ENST00000578373.5:c.*2309G>A	ENSP00000463427.1:n.*2309G>A
ENST00000580074.1:c.625G>A
ENST00000583038.5:n.3653G>A
ENST00000584450.5:c.2519G>A	ENSP00000463714.1:p.Arg840Gln
ENST00000584601.5:c.2429G>A	ENSP00000462438.1:p.Arg810Gln
NM_001005862.2:c.2429G>A , LRG_724t1:c.2429G>A	NP_001005862.1:p.Arg810Gln
NM_001289936.1:c.2474G>A , LRG_724t4:c.2474G>A	NP_001276865.1:p.Arg825Gln
NM_001289937.1:c.2519G>A	NP_001276866.1:p.Arg840Gln
NM_004448.3:c.2519G>A , LRG_724t2:c.2519G>A	NP_004439.2:p.Arg840Gln
NR_110535.1:n.2843G>A
XM_024450641.1:c.2657G>A	XP_024306409.1:p.Arg886Gln
XM_024450642.1:c.2612G>A	XP_024306410.1:p.Arg871Gln
XM_024450643.1:c.2567G>A	XP_024306411.1:p.Arg856Gln
NM_001005862.3:c.2429G>A	NP_001005862.1:p.Arg810Gln
NM_001289936.2:c.2474G>A	NP_001276865.1:p.Arg825Gln
NM_001289937.2:c.2519G>A	NP_001276866.1:p.Arg840Gln
NM_001382782.1:c.2429G>A	NP_001369711.1:p.Arg810Gln
NM_001382783.1:c.2429G>A	NP_001369712.1:p.Arg810Gln
NM_001382784.1:c.2636G>A	NP_001369713.1:p.Arg879Gln
NM_001382785.1:c.2621G>A	NP_001369714.1:p.Arg874Gln
NM_001382786.1:c.2600G>A	NP_001369715.1:p.Arg867Gln
NM_001382787.1:c.2594G>A	NP_001369716.1:p.Arg865Gln
NM_001382788.1:c.2549G>A	NP_001369717.1:p.Arg850Gln
NM_001382789.1:c.2540G>A	NP_001369718.1:p.Arg847Gln
NM_001382790.1:c.2516G>A	NP_001369719.1:p.Arg839Gln
NM_001382791.1:c.2510G>A	NP_001369720.1:p.Arg837Gln
NM_001382792.1:c.2483G>A	NP_001369721.1:p.Arg828Gln
NM_001382793.1:c.2477G>A	NP_001369722.1:p.Arg826Gln
NM_001382794.1:c.2477G>A	NP_001369723.1:p.Arg826Gln
NM_001382795.1:c.2471G>A	NP_001369724.1:p.Arg824Gln
NM_001382796.1:c.2519G>A	NP_001369725.1:p.Arg840Gln
NM_001382797.1:c.2420G>A	NP_001369726.1:p.Arg807Gln
NM_001382798.1:c.2493+163G>A	NP_001369727.1:n.2493+163G>A
NM_001382799.1:c.2339G>A	NP_001369728.1:p.Arg780Gln
NM_001382800.1:c.2333G>A	NP_001369729.1:p.Arg778Gln
NM_001382801.1:c.2445+163G>A	NP_001369730.1:n.2445+163G>A
NM_001382802.1:c.2261G>A	NP_001369731.1:p.Arg754Gln
NM_001382803.1:c.2477G>A	NP_001369732.1:p.Arg826Gln
NM_001382804.1:c.1691G>A	NP_001369733.1:p.Arg564Gln
NM_001382805.1:c.2208+1414G>A	NP_001369734.1:n.2208+1414G>A
NM_001382806.1:c.1481G>A	NP_001369735.1:p.Arg494Gln
NM_004448.4:c.2519G>A MANE Select	NP_004439.2:p.Arg840Gln
NR_110535.2:n.2757G>A