Canonical Allele Identifier: CA399303785

Gene: ERBB2

Linked Data

• dbSNP Id: rs2145853439
• MyVariant Identifiers: chr17:g.37881139T>A (hg19) ; chr17:g.39724886T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39724886T>A , CM000679.2:g.39724886T>A	GRCh38
NC_000017.10:g.37881139T>A , CM000679.1:g.37881139T>A	GRCh37
NC_000017.9:g.35134665T>A	NCBI36
NG_007503.1:g.41747T>A , LRG_724:g.41747T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.2468T>A MANE Select	ENSP00000269571.4:p.Leu823Gln
ENST00000269571.9:c.2468T>A	ENSP00000269571.4:p.Leu823Gln
ENST00000406381.6:c.2378T>A	ENSP00000385185.2:p.Leu793Gln
ENST00000445658.6:c.1640T>A	ENSP00000404047.2:p.Leu547Gln
ENST00000541774.5:c.2423T>A	ENSP00000446466.1:p.Leu808Gln
ENST00000578373.5:c.*2258T>A	ENSP00000463427.1:n.*2258T>A
ENST00000580074.1:c.574T>A
ENST00000583038.5:n.3602T>A
ENST00000584450.5:c.2468T>A	ENSP00000463714.1:p.Leu823Gln
ENST00000584601.5:c.2378T>A	ENSP00000462438.1:p.Leu793Gln
NM_001005862.2:c.2378T>A , LRG_724t1:c.2378T>A	NP_001005862.1:p.Leu793Gln
NM_001289936.1:c.2423T>A , LRG_724t4:c.2423T>A	NP_001276865.1:p.Leu808Gln
NM_001289937.1:c.2468T>A	NP_001276866.1:p.Leu823Gln
NM_004448.3:c.2468T>A , LRG_724t2:c.2468T>A	NP_004439.2:p.Leu823Gln
NR_110535.1:n.2792T>A
XM_024450641.1:c.2606T>A	XP_024306409.1:p.Leu869Gln
XM_024450642.1:c.2561T>A	XP_024306410.1:p.Leu854Gln
XM_024450643.1:c.2516T>A	XP_024306411.1:p.Leu839Gln
NM_001005862.3:c.2378T>A	NP_001005862.1:p.Leu793Gln
NM_001289936.2:c.2423T>A	NP_001276865.1:p.Leu808Gln
NM_001289937.2:c.2468T>A	NP_001276866.1:p.Leu823Gln
NM_001382782.1:c.2378T>A	NP_001369711.1:p.Leu793Gln
NM_001382783.1:c.2378T>A	NP_001369712.1:p.Leu793Gln
NM_001382784.1:c.2585T>A	NP_001369713.1:p.Leu862Gln
NM_001382785.1:c.2570T>A	NP_001369714.1:p.Leu857Gln
NM_001382786.1:c.2549T>A	NP_001369715.1:p.Leu850Gln
NM_001382787.1:c.2543T>A	NP_001369716.1:p.Leu848Gln
NM_001382788.1:c.2498T>A	NP_001369717.1:p.Leu833Gln
NM_001382789.1:c.2489T>A	NP_001369718.1:p.Leu830Gln
NM_001382790.1:c.2465T>A	NP_001369719.1:p.Leu822Gln
NM_001382791.1:c.2459T>A	NP_001369720.1:p.Leu820Gln
NM_001382792.1:c.2432T>A	NP_001369721.1:p.Leu811Gln
NM_001382793.1:c.2426T>A	NP_001369722.1:p.Leu809Gln
NM_001382794.1:c.2426T>A	NP_001369723.1:p.Leu809Gln
NM_001382795.1:c.2420T>A	NP_001369724.1:p.Leu807Gln
NM_001382796.1:c.2468T>A	NP_001369725.1:p.Leu823Gln
NM_001382797.1:c.2369T>A	NP_001369726.1:p.Leu790Gln
NM_001382798.1:c.2468T>A	NP_001369727.1:p.Leu823Gln
NM_001382799.1:c.2288T>A	NP_001369728.1:p.Leu763Gln
NM_001382800.1:c.2308-163T>A	NP_001369729.1:n.2308-163T>A
NM_001382801.1:c.2420T>A	NP_001369730.1:p.Leu807Gln
NM_001382802.1:c.2210T>A	NP_001369731.1:p.Leu737Gln
NM_001382803.1:c.2426T>A	NP_001369732.1:p.Leu809Gln
NM_001382804.1:c.1640T>A	NP_001369733.1:p.Leu547Gln
NM_001382805.1:c.2208+1226T>A	NP_001369734.1:n.2208+1226T>A
NM_001382806.1:c.1430T>A	NP_001369735.1:p.Leu477Gln
NM_004448.4:c.2468T>A MANE Select	NP_004439.2:p.Leu823Gln
NR_110535.2:n.2706T>A