Canonical Allele Identifier: CA399312598

Gene: ERBB2

Linked Data

• dbSNP Id: rs2059840147
• gnomAD v3: 17-39727478-G-T
• gnomAD v4: 17-39727478-G-T
• MyVariant Identifiers: chr17:g.37883731G>T (hg19) ; chr17:g.39727478G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727478G>T , CM000679.2:g.39727478G>T	GRCh38
NC_000017.10:g.37883731G>T , CM000679.1:g.37883731G>T	GRCh37
NC_000017.9:g.35137257G>T	NCBI36
NG_007503.1:g.44339G>T , LRG_724:g.44339G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3343G>T MANE Select	ENSP00000269571.4:p.Asp1115Tyr
ENST00000269571.9:c.3343G>T	ENSP00000269571.4:p.Asp1115Tyr
ENST00000406381.6:c.3253G>T	ENSP00000385185.2:p.Asp1085Tyr
ENST00000445658.6:c.2515G>T	ENSP00000404047.2:p.Asp839Tyr
ENST00000541774.5:c.3298G>T	ENSP00000446466.1:p.Asp1100Tyr
ENST00000578373.5:c.*3133G>T	ENSP00000463427.1:n.*3133G>T
ENST00000584450.5:c.3160-211G>T	ENSP00000463714.1:n.3160-211G>T
ENST00000584601.5:c.3253G>T	ENSP00000462438.1:p.Asp1085Tyr
NM_001005862.2:c.3253G>T , LRG_724t1:c.3253G>T	NP_001005862.1:p.Asp1085Tyr
NM_001289936.1:c.3298G>T , LRG_724t4:c.3298G>T	NP_001276865.1:p.Asp1100Tyr
NM_001289937.1:c.3160-211G>T	NP_001276866.1:n.3160-211G>T
NM_004448.3:c.3343G>T , LRG_724t2:c.3343G>T	NP_004439.2:p.Asp1115Tyr
NR_110535.1:n.3667G>T
XM_024450641.1:c.3481G>T	XP_024306409.1:p.Asp1161Tyr
XM_024450642.1:c.3436G>T	XP_024306410.1:p.Asp1146Tyr
XM_024450643.1:c.3391G>T	XP_024306411.1:p.Asp1131Tyr
NM_001005862.3:c.3253G>T	NP_001005862.1:p.Asp1085Tyr
NM_001289936.2:c.3298G>T	NP_001276865.1:p.Asp1100Tyr
NM_001289937.2:c.3160-211G>T	NP_001276866.1:n.3160-211G>T
NM_001382782.1:c.3253G>T	NP_001369711.1:p.Asp1085Tyr
NM_001382783.1:c.3253G>T	NP_001369712.1:p.Asp1085Tyr
NM_001382784.1:c.3460G>T	NP_001369713.1:p.Asp1154Tyr
NM_001382785.1:c.3445G>T	NP_001369714.1:p.Asp1149Tyr
NM_001382786.1:c.3424G>T	NP_001369715.1:p.Asp1142Tyr
NM_001382787.1:c.3418G>T	NP_001369716.1:p.Asp1140Tyr
NM_001382788.1:c.3373G>T	NP_001369717.1:p.Asp1125Tyr
NM_001382789.1:c.3364G>T	NP_001369718.1:p.Asp1122Tyr
NM_001382790.1:c.3340G>T	NP_001369719.1:p.Asp1114Tyr
NM_001382791.1:c.3334G>T	NP_001369720.1:p.Asp1112Tyr
NM_001382792.1:c.3307G>T	NP_001369721.1:p.Asp1103Tyr
NM_001382793.1:c.3301G>T	NP_001369722.1:p.Asp1101Tyr
NM_001382794.1:c.3301G>T	NP_001369723.1:p.Asp1101Tyr
NM_001382795.1:c.3295G>T	NP_001369724.1:p.Asp1099Tyr
NM_001382796.1:c.3256G>T	NP_001369725.1:p.Asp1086Tyr
NM_001382797.1:c.3244G>T	NP_001369726.1:p.Asp1082Tyr
NM_001382798.1:c.3187G>T	NP_001369727.1:p.Asp1063Tyr
NM_001382799.1:c.3163G>T	NP_001369728.1:p.Asp1055Tyr
NM_001382800.1:c.3157G>T	NP_001369729.1:p.Asp1053Tyr
NM_001382801.1:c.3139G>T	NP_001369730.1:p.Asp1047Tyr
NM_001382802.1:c.3085G>T	NP_001369731.1:p.Asp1029Tyr
NM_001382803.1:c.3118-211G>T	NP_001369732.1:n.3118-211G>T
NM_001382804.1:c.2515G>T	NP_001369733.1:p.Asp839Tyr
NM_001382805.1:c.2392G>T	NP_001369734.1:p.Asp798Tyr
NM_001382806.1:c.2305G>T	NP_001369735.1:p.Asp769Tyr
NM_004448.4:c.3343G>T MANE Select	NP_004439.2:p.Asp1115Tyr
NR_110535.2:n.3581G>T