Canonical Allele Identifier: CA499671643

Gene: ERBB2

Linked Data

• dbSNP Id: rs2143243159
• MyVariant Identifiers: chr17:g.37883646T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727393T>C , CM000679.2:g.39727393T>C	GRCh38
NC_000017.10:g.37883646T>C , CM000679.1:g.37883646T>C	GRCh37
NC_000017.9:g.35137172T>C	NCBI36
NG_007503.1:g.44254T>C , LRG_724:g.44254T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3258T>C MANE Select	ENSP00000269571.4:p.Phe1086=
ENST00000269571.9:c.3258T>C	ENSP00000269571.4:p.Phe1086=
ENST00000406381.6:c.3168T>C	ENSP00000385185.2:p.Phe1056=
ENST00000445658.6:c.2430T>C	ENSP00000404047.2:p.Phe810=
ENST00000541774.5:c.3213T>C	ENSP00000446466.1:p.Phe1071=
ENST00000578373.5:c.*3048T>C	ENSP00000463427.1:n.*3048T>C
ENST00000584450.5:c.3160-296T>C	ENSP00000463714.1:n.3160-296T>C
ENST00000584601.5:c.3168T>C	ENSP00000462438.1:p.Phe1056=
NM_001005862.2:c.3168T>C , LRG_724t1:c.3168T>C	NP_001005862.1:p.Phe1056=
NM_001289936.1:c.3213T>C , LRG_724t4:c.3213T>C	NP_001276865.1:p.Phe1071=
NM_001289937.1:c.3160-296T>C	NP_001276866.1:n.3160-296T>C
NM_004448.3:c.3258T>C , LRG_724t2:c.3258T>C	NP_004439.2:p.Phe1086=
NR_110535.1:n.3582T>C
XM_024450641.1:c.3396T>C	XP_024306409.1:p.Phe1132=
XM_024450642.1:c.3351T>C	XP_024306410.1:p.Phe1117=
XM_024450643.1:c.3306T>C	XP_024306411.1:p.Phe1102=
NM_001005862.3:c.3168T>C	NP_001005862.1:p.Phe1056=
NM_001289936.2:c.3213T>C	NP_001276865.1:p.Phe1071=
NM_001289937.2:c.3160-296T>C	NP_001276866.1:n.3160-296T>C
NM_001382782.1:c.3168T>C	NP_001369711.1:p.Phe1056=
NM_001382783.1:c.3168T>C	NP_001369712.1:p.Phe1056=
NM_001382784.1:c.3375T>C	NP_001369713.1:p.Phe1125=
NM_001382785.1:c.3360T>C	NP_001369714.1:p.Phe1120=
NM_001382786.1:c.3339T>C	NP_001369715.1:p.Phe1113=
NM_001382787.1:c.3333T>C	NP_001369716.1:p.Phe1111=
NM_001382788.1:c.3288T>C	NP_001369717.1:p.Phe1096=
NM_001382789.1:c.3279T>C	NP_001369718.1:p.Phe1093=
NM_001382790.1:c.3255T>C	NP_001369719.1:p.Phe1085=
NM_001382791.1:c.3249T>C	NP_001369720.1:p.Phe1083=
NM_001382792.1:c.3222T>C	NP_001369721.1:p.Phe1074=
NM_001382793.1:c.3216T>C	NP_001369722.1:p.Phe1072=
NM_001382794.1:c.3216T>C	NP_001369723.1:p.Phe1072=
NM_001382795.1:c.3210T>C	NP_001369724.1:p.Phe1070=
NM_001382796.1:c.3171T>C	NP_001369725.1:p.Phe1057=
NM_001382797.1:c.3159T>C	NP_001369726.1:p.Phe1053=
NM_001382798.1:c.3102T>C	NP_001369727.1:p.Phe1034=
NM_001382799.1:c.3078T>C	NP_001369728.1:p.Phe1026=
NM_001382800.1:c.3072T>C	NP_001369729.1:p.Phe1024=
NM_001382801.1:c.3054T>C	NP_001369730.1:p.Phe1018=
NM_001382802.1:c.3000T>C	NP_001369731.1:p.Phe1000=
NM_001382803.1:c.3118-296T>C	NP_001369732.1:n.3118-296T>C
NM_001382804.1:c.2430T>C	NP_001369733.1:p.Phe810=
NM_001382805.1:c.2307T>C	NP_001369734.1:p.Phe769=
NM_001382806.1:c.2220T>C	NP_001369735.1:p.Phe740=
NM_004448.4:c.3258T>C MANE Select	NP_004439.2:p.Phe1086=
NR_110535.2:n.3496T>C