Canonical Allele Identifier: CA8534561

Gene: ERBB2

Linked Data

• ClinVar Variation Id: 842158
• ClinVar RCV Id: RCV001044532
• dbSNP Id: rs767717383
• ExAC: 17:37883966 G / A
• gnomAD v2: 17-37883966-G-A
• gnomAD v4: 17-39727713-G-A
• MyVariant Identifiers: chr17:g.37883966G>A (hg19) ; chr17:g.39727713G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727713G>A , CM000679.2:g.39727713G>A	GRCh38
NC_000017.10:g.37883966G>A , CM000679.1:g.37883966G>A	GRCh37
NC_000017.9:g.35137492G>A	NCBI36
NG_007503.1:g.44574G>A , LRG_724:g.44574G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3437G>A MANE Select	ENSP00000269571.4:p.Arg1146Gln
ENST00000269571.9:c.3437G>A	ENSP00000269571.4:p.Arg1146Gln
ENST00000406381.6:c.3347G>A	ENSP00000385185.2:p.Arg1116Gln
ENST00000445658.6:c.2609G>A	ENSP00000404047.2:p.Arg870Gln
ENST00000541774.5:c.3392G>A	ENSP00000446466.1:p.Arg1131Gln
ENST00000578373.5:c.*3227G>A	ENSP00000463427.1:n.*3227G>A
ENST00000584450.5:c.*16G>A	ENSP00000463714.1:n.*16G>A
ENST00000584601.5:c.3347G>A	ENSP00000462438.1:p.Arg1116Gln
NM_001005862.2:c.3347G>A , LRG_724t1:c.3347G>A	NP_001005862.1:p.Arg1116Gln
NM_001289936.1:c.3392G>A , LRG_724t4:c.3392G>A	NP_001276865.1:p.Arg1131Gln
NM_001289937.1:c.*16G>A	NP_001276866.1:n.*16G>A
NM_004448.3:c.3437G>A , LRG_724t2:c.3437G>A	NP_004439.2:p.Arg1146Gln
NR_110535.1:n.3761G>A
XM_024450641.1:c.3575G>A	XP_024306409.1:p.Arg1192Gln
XM_024450642.1:c.3530G>A	XP_024306410.1:p.Arg1177Gln
XM_024450643.1:c.3485G>A	XP_024306411.1:p.Arg1162Gln
NM_001005862.3:c.3347G>A	NP_001005862.1:p.Arg1116Gln
NM_001289936.2:c.3392G>A	NP_001276865.1:p.Arg1131Gln
NM_001289937.2:c.*16G>A	NP_001276866.1:n.*16G>A
NM_001382782.1:c.3347G>A	NP_001369711.1:p.Arg1116Gln
NM_001382783.1:c.3347G>A	NP_001369712.1:p.Arg1116Gln
NM_001382784.1:c.3554G>A	NP_001369713.1:p.Arg1185Gln
NM_001382785.1:c.3539G>A	NP_001369714.1:p.Arg1180Gln
NM_001382786.1:c.3518G>A	NP_001369715.1:p.Arg1173Gln
NM_001382787.1:c.3512G>A	NP_001369716.1:p.Arg1171Gln
NM_001382788.1:c.3467G>A	NP_001369717.1:p.Arg1156Gln
NM_001382789.1:c.3458G>A	NP_001369718.1:p.Arg1153Gln
NM_001382790.1:c.3434G>A	NP_001369719.1:p.Arg1145Gln
NM_001382791.1:c.3428G>A	NP_001369720.1:p.Arg1143Gln
NM_001382792.1:c.3401G>A	NP_001369721.1:p.Arg1134Gln
NM_001382793.1:c.3395G>A	NP_001369722.1:p.Arg1132Gln
NM_001382794.1:c.3395G>A	NP_001369723.1:p.Arg1132Gln
NM_001382795.1:c.3389G>A	NP_001369724.1:p.Arg1130Gln
NM_001382796.1:c.3350G>A	NP_001369725.1:p.Arg1117Gln
NM_001382797.1:c.3338G>A	NP_001369726.1:p.Arg1113Gln
NM_001382798.1:c.3281G>A	NP_001369727.1:p.Arg1094Gln
NM_001382799.1:c.3257G>A	NP_001369728.1:p.Arg1086Gln
NM_001382800.1:c.3251G>A	NP_001369729.1:p.Arg1084Gln
NM_001382801.1:c.3233G>A	NP_001369730.1:p.Arg1078Gln
NM_001382802.1:c.3179G>A	NP_001369731.1:p.Arg1060Gln
NM_001382803.1:c.*16G>A	NP_001369732.1:n.*16G>A
NM_001382804.1:c.2609G>A	NP_001369733.1:p.Arg870Gln
NM_001382805.1:c.2486G>A	NP_001369734.1:p.Arg829Gln
NM_001382806.1:c.2399G>A	NP_001369735.1:p.Arg800Gln
NM_004448.4:c.3437G>A MANE Select	NP_004439.2:p.Arg1146Gln
NR_110535.2:n.3675G>A