Canonical Allele Identifier: CA8534529

Gene: ERBB2

Linked Data

• ClinVar Variation Id: 853330
• ClinVar RCV Id: RCV001058118
• dbSNP Id: rs148211805
• ExAC: 17:37883763 T / A
• gnomAD v2: 17-37883763-T-A
• gnomAD v3: 17-39727510-T-A
• gnomAD v4: 17-39727510-T-A
• MyVariant Identifiers: chr17:g.37883763T>A (hg19) ; chr17:g.39727510T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727510T>A , CM000679.2:g.39727510T>A	GRCh38
NC_000017.10:g.37883763T>A , CM000679.1:g.37883763T>A	GRCh37
NC_000017.9:g.35137289T>A	NCBI36
NG_007503.1:g.44371T>A , LRG_724:g.44371T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3375T>A MANE Select	ENSP00000269571.4:p.Asp1125Glu
ENST00000269571.9:c.3375T>A	ENSP00000269571.4:p.Asp1125Glu
ENST00000406381.6:c.3285T>A	ENSP00000385185.2:p.Asp1095Glu
ENST00000445658.6:c.2547T>A	ENSP00000404047.2:p.Asp849Glu
ENST00000541774.5:c.3330T>A	ENSP00000446466.1:p.Asp1110Glu
ENST00000578373.5:c.*3165T>A	ENSP00000463427.1:n.*3165T>A
ENST00000584450.5:c.3160-179T>A	ENSP00000463714.1:n.3160-179T>A
ENST00000584601.5:c.3285T>A	ENSP00000462438.1:p.Asp1095Glu
NM_001005862.2:c.3285T>A , LRG_724t1:c.3285T>A	NP_001005862.1:p.Asp1095Glu
NM_001289936.1:c.3330T>A , LRG_724t4:c.3330T>A	NP_001276865.1:p.Asp1110Glu
NM_001289937.1:c.3160-179T>A	NP_001276866.1:n.3160-179T>A
NM_004448.3:c.3375T>A , LRG_724t2:c.3375T>A	NP_004439.2:p.Asp1125Glu
NR_110535.1:n.3699T>A
XM_024450641.1:c.3513T>A	XP_024306409.1:p.Asp1171Glu
XM_024450642.1:c.3468T>A	XP_024306410.1:p.Asp1156Glu
XM_024450643.1:c.3423T>A	XP_024306411.1:p.Asp1141Glu
NM_001005862.3:c.3285T>A	NP_001005862.1:p.Asp1095Glu
NM_001289936.2:c.3330T>A	NP_001276865.1:p.Asp1110Glu
NM_001289937.2:c.3160-179T>A	NP_001276866.1:n.3160-179T>A
NM_001382782.1:c.3285T>A	NP_001369711.1:p.Asp1095Glu
NM_001382783.1:c.3285T>A	NP_001369712.1:p.Asp1095Glu
NM_001382784.1:c.3492T>A	NP_001369713.1:p.Asp1164Glu
NM_001382785.1:c.3477T>A	NP_001369714.1:p.Asp1159Glu
NM_001382786.1:c.3456T>A	NP_001369715.1:p.Asp1152Glu
NM_001382787.1:c.3450T>A	NP_001369716.1:p.Asp1150Glu
NM_001382788.1:c.3405T>A	NP_001369717.1:p.Asp1135Glu
NM_001382789.1:c.3396T>A	NP_001369718.1:p.Asp1132Glu
NM_001382790.1:c.3372T>A	NP_001369719.1:p.Asp1124Glu
NM_001382791.1:c.3366T>A	NP_001369720.1:p.Asp1122Glu
NM_001382792.1:c.3339T>A	NP_001369721.1:p.Asp1113Glu
NM_001382793.1:c.3333T>A	NP_001369722.1:p.Asp1111Glu
NM_001382794.1:c.3333T>A	NP_001369723.1:p.Asp1111Glu
NM_001382795.1:c.3327T>A	NP_001369724.1:p.Asp1109Glu
NM_001382796.1:c.3288T>A	NP_001369725.1:p.Asp1096Glu
NM_001382797.1:c.3276T>A	NP_001369726.1:p.Asp1092Glu
NM_001382798.1:c.3219T>A	NP_001369727.1:p.Asp1073Glu
NM_001382799.1:c.3195T>A	NP_001369728.1:p.Asp1065Glu
NM_001382800.1:c.3189T>A	NP_001369729.1:p.Asp1063Glu
NM_001382801.1:c.3171T>A	NP_001369730.1:p.Asp1057Glu
NM_001382802.1:c.3117T>A	NP_001369731.1:p.Asp1039Glu
NM_001382803.1:c.3118-179T>A	NP_001369732.1:n.3118-179T>A
NM_001382804.1:c.2547T>A	NP_001369733.1:p.Asp849Glu
NM_001382805.1:c.2424T>A	NP_001369734.1:p.Asp808Glu
NM_001382806.1:c.2337T>A	NP_001369735.1:p.Asp779Glu
NM_004448.4:c.3375T>A MANE Select	NP_004439.2:p.Asp1125Glu
NR_110535.2:n.3613T>A