Canonical Allele Identifier: CA399310194

Gene: ERBB2

Linked Data

• MyVariant Identifiers: chr17:g.37883576T>A (hg19) ; chr17:g.39727323T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727323T>A , CM000679.2:g.39727323T>A	GRCh38
NC_000017.10:g.37883576T>A , CM000679.1:g.37883576T>A	GRCh37
NC_000017.9:g.35137102T>A	NCBI36
NG_007503.1:g.44184T>A , LRG_724:g.44184T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3188T>A MANE Select	ENSP00000269571.4:p.Leu1063Gln
ENST00000269571.9:c.3188T>A	ENSP00000269571.4:p.Leu1063Gln
ENST00000406381.6:c.3098T>A	ENSP00000385185.2:p.Leu1033Gln
ENST00000445658.6:c.2360T>A	ENSP00000404047.2:p.Leu787Gln
ENST00000541774.5:c.3143T>A	ENSP00000446466.1:p.Leu1048Gln
ENST00000578373.5:c.*2978T>A	ENSP00000463427.1:n.*2978T>A
ENST00000584450.5:c.3159+320T>A	ENSP00000463714.1:n.3159+320T>A
ENST00000584601.5:c.3098T>A	ENSP00000462438.1:p.Leu1033Gln
NM_001005862.2:c.3098T>A , LRG_724t1:c.3098T>A	NP_001005862.1:p.Leu1033Gln
NM_001289936.1:c.3143T>A , LRG_724t4:c.3143T>A	NP_001276865.1:p.Leu1048Gln
NM_001289937.1:c.3159+320T>A	NP_001276866.1:n.3159+320T>A
NM_004448.3:c.3188T>A , LRG_724t2:c.3188T>A	NP_004439.2:p.Leu1063Gln
NR_110535.1:n.3512T>A
XM_024450641.1:c.3326T>A	XP_024306409.1:p.Leu1109Gln
XM_024450642.1:c.3281T>A	XP_024306410.1:p.Leu1094Gln
XM_024450643.1:c.3236T>A	XP_024306411.1:p.Leu1079Gln
NM_001005862.3:c.3098T>A	NP_001005862.1:p.Leu1033Gln
NM_001289936.2:c.3143T>A	NP_001276865.1:p.Leu1048Gln
NM_001289937.2:c.3159+320T>A	NP_001276866.1:n.3159+320T>A
NM_001382782.1:c.3098T>A	NP_001369711.1:p.Leu1033Gln
NM_001382783.1:c.3098T>A	NP_001369712.1:p.Leu1033Gln
NM_001382784.1:c.3305T>A	NP_001369713.1:p.Leu1102Gln
NM_001382785.1:c.3290T>A	NP_001369714.1:p.Leu1097Gln
NM_001382786.1:c.3269T>A	NP_001369715.1:p.Leu1090Gln
NM_001382787.1:c.3263T>A	NP_001369716.1:p.Leu1088Gln
NM_001382788.1:c.3218T>A	NP_001369717.1:p.Leu1073Gln
NM_001382789.1:c.3209T>A	NP_001369718.1:p.Leu1070Gln
NM_001382790.1:c.3185T>A	NP_001369719.1:p.Leu1062Gln
NM_001382791.1:c.3179T>A	NP_001369720.1:p.Leu1060Gln
NM_001382792.1:c.3152T>A	NP_001369721.1:p.Leu1051Gln
NM_001382793.1:c.3146T>A	NP_001369722.1:p.Leu1049Gln
NM_001382794.1:c.3146T>A	NP_001369723.1:p.Leu1049Gln
NM_001382795.1:c.3140T>A	NP_001369724.1:p.Leu1047Gln
NM_001382796.1:c.3101T>A	NP_001369725.1:p.Leu1034Gln
NM_001382797.1:c.3089T>A	NP_001369726.1:p.Leu1030Gln
NM_001382798.1:c.3032T>A	NP_001369727.1:p.Leu1011Gln
NM_001382799.1:c.3008T>A	NP_001369728.1:p.Leu1003Gln
NM_001382800.1:c.3002T>A	NP_001369729.1:p.Leu1001Gln
NM_001382801.1:c.2984T>A	NP_001369730.1:p.Leu995Gln
NM_001382802.1:c.2930T>A	NP_001369731.1:p.Leu977Gln
NM_001382803.1:c.3117+320T>A	NP_001369732.1:n.3117+320T>A
NM_001382804.1:c.2360T>A	NP_001369733.1:p.Leu787Gln
NM_001382805.1:c.2237T>A	NP_001369734.1:p.Leu746Gln
NM_001382806.1:c.2150T>A	NP_001369735.1:p.Leu717Gln
NM_004448.4:c.3188T>A MANE Select	NP_004439.2:p.Leu1063Gln
NR_110535.2:n.3426T>A