Canonical Allele Identifier: CA158684

Gene: ERBB2

Linked Data

• ClinVar Variation Id: 134085
• ClinVar RCV Id: RCV000120756 ; RCV001512300
• dbSNP Id: rs150680317
• ExAC: 17:37884011 G / A
• gnomAD v2: 17-37884011-G-A
• gnomAD v3: 17-39727758-G-A
• gnomAD v4: 17-39727758-G-A
• MyVariant Identifiers: chr17:g.37884011G>A (hg19) ; chr17:g.39727758G>A (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727758G>A , CM000679.2:g.39727758G>A	GRCh38
NC_000017.10:g.37884011G>A , CM000679.1:g.37884011G>A	GRCh37
NC_000017.9:g.35137537G>A	NCBI36
NG_007503.1:g.44619G>A , LRG_724:g.44619G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3482G>A MANE Select	ENSP00000269571.4:p.Arg1161Gln
ENST00000269571.9:c.3482G>A	ENSP00000269571.4:p.Arg1161Gln
ENST00000406381.6:c.3392G>A	ENSP00000385185.2:p.Arg1131Gln
ENST00000445658.6:c.2654G>A	ENSP00000404047.2:p.Arg885Gln
ENST00000541774.5:c.3437G>A	ENSP00000446466.1:p.Arg1146Gln
ENST00000578373.5:c.*3272G>A	ENSP00000463427.1:n.*3272G>A
ENST00000584450.5:c.*61G>A	ENSP00000463714.1:n.*61G>A
ENST00000584601.5:c.3392G>A	ENSP00000462438.1:p.Arg1131Gln
NM_001005862.2:c.3392G>A , LRG_724t1:c.3392G>A	NP_001005862.1:p.Arg1131Gln
NM_001289936.1:c.3437G>A , LRG_724t4:c.3437G>A	NP_001276865.1:p.Arg1146Gln
NM_001289937.1:c.*61G>A	NP_001276866.1:n.*61G>A
NM_004448.3:c.3482G>A , LRG_724t2:c.3482G>A	NP_004439.2:p.Arg1161Gln
NR_110535.1:n.3806G>A
XM_024450641.1:c.3620G>A	XP_024306409.1:p.Arg1207Gln
XM_024450642.1:c.3575G>A	XP_024306410.1:p.Arg1192Gln
XM_024450643.1:c.3530G>A	XP_024306411.1:p.Arg1177Gln
NM_001005862.3:c.3392G>A	NP_001005862.1:p.Arg1131Gln
NM_001289936.2:c.3437G>A	NP_001276865.1:p.Arg1146Gln
NM_001289937.2:c.*61G>A	NP_001276866.1:n.*61G>A
NM_001382782.1:c.3392G>A	NP_001369711.1:p.Arg1131Gln
NM_001382783.1:c.3392G>A	NP_001369712.1:p.Arg1131Gln
NM_001382784.1:c.3599G>A	NP_001369713.1:p.Arg1200Gln
NM_001382785.1:c.3584G>A	NP_001369714.1:p.Arg1195Gln
NM_001382786.1:c.3563G>A	NP_001369715.1:p.Arg1188Gln
NM_001382787.1:c.3557G>A	NP_001369716.1:p.Arg1186Gln
NM_001382788.1:c.3512G>A	NP_001369717.1:p.Arg1171Gln
NM_001382789.1:c.3503G>A	NP_001369718.1:p.Arg1168Gln
NM_001382790.1:c.3479G>A	NP_001369719.1:p.Arg1160Gln
NM_001382791.1:c.3473G>A	NP_001369720.1:p.Arg1158Gln
NM_001382792.1:c.3446G>A	NP_001369721.1:p.Arg1149Gln
NM_001382793.1:c.3440G>A	NP_001369722.1:p.Arg1147Gln
NM_001382794.1:c.3440G>A	NP_001369723.1:p.Arg1147Gln
NM_001382795.1:c.3434G>A	NP_001369724.1:p.Arg1145Gln
NM_001382796.1:c.3395G>A	NP_001369725.1:p.Arg1132Gln
NM_001382797.1:c.3383G>A	NP_001369726.1:p.Arg1128Gln
NM_001382798.1:c.3326G>A	NP_001369727.1:p.Arg1109Gln
NM_001382799.1:c.3302G>A	NP_001369728.1:p.Arg1101Gln
NM_001382800.1:c.3296G>A	NP_001369729.1:p.Arg1099Gln
NM_001382801.1:c.3278G>A	NP_001369730.1:p.Arg1093Gln
NM_001382802.1:c.3224G>A	NP_001369731.1:p.Arg1075Gln
NM_001382803.1:c.*61G>A	NP_001369732.1:n.*61G>A
NM_001382804.1:c.2654G>A	NP_001369733.1:p.Arg885Gln
NM_001382805.1:c.2531G>A	NP_001369734.1:p.Arg844Gln
NM_001382806.1:c.2444G>A	NP_001369735.1:p.Arg815Gln
NM_004448.4:c.3482G>A MANE Select	NP_004439.2:p.Arg1161Gln
NR_110535.2:n.3720G>A