Canonical Allele Identifier: CA399310259

Gene: ERBB2

Linked Data

• MyVariant Identifiers: chr17:g.37883591A>C (hg19) ; chr17:g.39727338A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727338A>C , CM000679.2:g.39727338A>C	GRCh38
NC_000017.10:g.37883591A>C , CM000679.1:g.37883591A>C	GRCh37
NC_000017.9:g.35137117A>C	NCBI36
NG_007503.1:g.44199A>C , LRG_724:g.44199A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3203A>C MANE Select	ENSP00000269571.4:p.Glu1068Ala
ENST00000269571.9:c.3203A>C	ENSP00000269571.4:p.Glu1068Ala
ENST00000406381.6:c.3113A>C	ENSP00000385185.2:p.Glu1038Ala
ENST00000445658.6:c.2375A>C	ENSP00000404047.2:p.Glu792Ala
ENST00000541774.5:c.3158A>C	ENSP00000446466.1:p.Glu1053Ala
ENST00000578373.5:c.*2993A>C	ENSP00000463427.1:n.*2993A>C
ENST00000584450.5:c.3159+335A>C	ENSP00000463714.1:n.3159+335A>C
ENST00000584601.5:c.3113A>C	ENSP00000462438.1:p.Glu1038Ala
NM_001005862.2:c.3113A>C , LRG_724t1:c.3113A>C	NP_001005862.1:p.Glu1038Ala
NM_001289936.1:c.3158A>C , LRG_724t4:c.3158A>C	NP_001276865.1:p.Glu1053Ala
NM_001289937.1:c.3159+335A>C	NP_001276866.1:n.3159+335A>C
NM_004448.3:c.3203A>C , LRG_724t2:c.3203A>C	NP_004439.2:p.Glu1068Ala
NR_110535.1:n.3527A>C
XM_024450641.1:c.3341A>C	XP_024306409.1:p.Glu1114Ala
XM_024450642.1:c.3296A>C	XP_024306410.1:p.Glu1099Ala
XM_024450643.1:c.3251A>C	XP_024306411.1:p.Glu1084Ala
NM_001005862.3:c.3113A>C	NP_001005862.1:p.Glu1038Ala
NM_001289936.2:c.3158A>C	NP_001276865.1:p.Glu1053Ala
NM_001289937.2:c.3159+335A>C	NP_001276866.1:n.3159+335A>C
NM_001382782.1:c.3113A>C	NP_001369711.1:p.Glu1038Ala
NM_001382783.1:c.3113A>C	NP_001369712.1:p.Glu1038Ala
NM_001382784.1:c.3320A>C	NP_001369713.1:p.Glu1107Ala
NM_001382785.1:c.3305A>C	NP_001369714.1:p.Glu1102Ala
NM_001382786.1:c.3284A>C	NP_001369715.1:p.Glu1095Ala
NM_001382787.1:c.3278A>C	NP_001369716.1:p.Glu1093Ala
NM_001382788.1:c.3233A>C	NP_001369717.1:p.Glu1078Ala
NM_001382789.1:c.3224A>C	NP_001369718.1:p.Glu1075Ala
NM_001382790.1:c.3200A>C	NP_001369719.1:p.Glu1067Ala
NM_001382791.1:c.3194A>C	NP_001369720.1:p.Glu1065Ala
NM_001382792.1:c.3167A>C	NP_001369721.1:p.Glu1056Ala
NM_001382793.1:c.3161A>C	NP_001369722.1:p.Glu1054Ala
NM_001382794.1:c.3161A>C	NP_001369723.1:p.Glu1054Ala
NM_001382795.1:c.3155A>C	NP_001369724.1:p.Glu1052Ala
NM_001382796.1:c.3116A>C	NP_001369725.1:p.Glu1039Ala
NM_001382797.1:c.3104A>C	NP_001369726.1:p.Glu1035Ala
NM_001382798.1:c.3047A>C	NP_001369727.1:p.Glu1016Ala
NM_001382799.1:c.3023A>C	NP_001369728.1:p.Glu1008Ala
NM_001382800.1:c.3017A>C	NP_001369729.1:p.Glu1006Ala
NM_001382801.1:c.2999A>C	NP_001369730.1:p.Glu1000Ala
NM_001382802.1:c.2945A>C	NP_001369731.1:p.Glu982Ala
NM_001382803.1:c.3117+335A>C	NP_001369732.1:n.3117+335A>C
NM_001382804.1:c.2375A>C	NP_001369733.1:p.Glu792Ala
NM_001382805.1:c.2252A>C	NP_001369734.1:p.Glu751Ala
NM_001382806.1:c.2165A>C	NP_001369735.1:p.Glu722Ala
NM_004448.4:c.3203A>C MANE Select	NP_004439.2:p.Glu1068Ala
NR_110535.2:n.3441A>C