Canonical Allele Identifier: CA399312526

Gene: ERBB2

Linked Data

• dbSNP Id: rs2143251032
• MyVariant Identifiers: chr17:g.37883714T>A (hg19) ; chr17:g.39727461T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727461T>A , CM000679.2:g.39727461T>A	GRCh38
NC_000017.10:g.37883714T>A , CM000679.1:g.37883714T>A	GRCh37
NC_000017.9:g.35137240T>A	NCBI36
NG_007503.1:g.44322T>A , LRG_724:g.44322T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3326T>A MANE Select	ENSP00000269571.4:p.Leu1109Gln
ENST00000269571.9:c.3326T>A	ENSP00000269571.4:p.Leu1109Gln
ENST00000406381.6:c.3236T>A	ENSP00000385185.2:p.Leu1079Gln
ENST00000445658.6:c.2498T>A	ENSP00000404047.2:p.Leu833Gln
ENST00000541774.5:c.3281T>A	ENSP00000446466.1:p.Leu1094Gln
ENST00000578373.5:c.*3116T>A	ENSP00000463427.1:n.*3116T>A
ENST00000584450.5:c.3160-228T>A	ENSP00000463714.1:n.3160-228T>A
ENST00000584601.5:c.3236T>A	ENSP00000462438.1:p.Leu1079Gln
NM_001005862.2:c.3236T>A , LRG_724t1:c.3236T>A	NP_001005862.1:p.Leu1079Gln
NM_001289936.1:c.3281T>A , LRG_724t4:c.3281T>A	NP_001276865.1:p.Leu1094Gln
NM_001289937.1:c.3160-228T>A	NP_001276866.1:n.3160-228T>A
NM_004448.3:c.3326T>A , LRG_724t2:c.3326T>A	NP_004439.2:p.Leu1109Gln
NR_110535.1:n.3650T>A
XM_024450641.1:c.3464T>A	XP_024306409.1:p.Leu1155Gln
XM_024450642.1:c.3419T>A	XP_024306410.1:p.Leu1140Gln
XM_024450643.1:c.3374T>A	XP_024306411.1:p.Leu1125Gln
NM_001005862.3:c.3236T>A	NP_001005862.1:p.Leu1079Gln
NM_001289936.2:c.3281T>A	NP_001276865.1:p.Leu1094Gln
NM_001289937.2:c.3160-228T>A	NP_001276866.1:n.3160-228T>A
NM_001382782.1:c.3236T>A	NP_001369711.1:p.Leu1079Gln
NM_001382783.1:c.3236T>A	NP_001369712.1:p.Leu1079Gln
NM_001382784.1:c.3443T>A	NP_001369713.1:p.Leu1148Gln
NM_001382785.1:c.3428T>A	NP_001369714.1:p.Leu1143Gln
NM_001382786.1:c.3407T>A	NP_001369715.1:p.Leu1136Gln
NM_001382787.1:c.3401T>A	NP_001369716.1:p.Leu1134Gln
NM_001382788.1:c.3356T>A	NP_001369717.1:p.Leu1119Gln
NM_001382789.1:c.3347T>A	NP_001369718.1:p.Leu1116Gln
NM_001382790.1:c.3323T>A	NP_001369719.1:p.Leu1108Gln
NM_001382791.1:c.3317T>A	NP_001369720.1:p.Leu1106Gln
NM_001382792.1:c.3290T>A	NP_001369721.1:p.Leu1097Gln
NM_001382793.1:c.3284T>A	NP_001369722.1:p.Leu1095Gln
NM_001382794.1:c.3284T>A	NP_001369723.1:p.Leu1095Gln
NM_001382795.1:c.3278T>A	NP_001369724.1:p.Leu1093Gln
NM_001382796.1:c.3239T>A	NP_001369725.1:p.Leu1080Gln
NM_001382797.1:c.3227T>A	NP_001369726.1:p.Leu1076Gln
NM_001382798.1:c.3170T>A	NP_001369727.1:p.Leu1057Gln
NM_001382799.1:c.3146T>A	NP_001369728.1:p.Leu1049Gln
NM_001382800.1:c.3140T>A	NP_001369729.1:p.Leu1047Gln
NM_001382801.1:c.3122T>A	NP_001369730.1:p.Leu1041Gln
NM_001382802.1:c.3068T>A	NP_001369731.1:p.Leu1023Gln
NM_001382803.1:c.3118-228T>A	NP_001369732.1:n.3118-228T>A
NM_001382804.1:c.2498T>A	NP_001369733.1:p.Leu833Gln
NM_001382805.1:c.2375T>A	NP_001369734.1:p.Leu792Gln
NM_001382806.1:c.2288T>A	NP_001369735.1:p.Leu763Gln
NM_004448.4:c.3326T>A MANE Select	NP_004439.2:p.Leu1109Gln
NR_110535.2:n.3564T>A