Canonical Allele Identifier: CA399303200

Gene: ERBB2

Linked Data

• MyVariant Identifiers: chr17:g.37881058T>A (hg19) ; chr17:g.39724805T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39724805T>A , CM000679.2:g.39724805T>A	GRCh38
NC_000017.10:g.37881058T>A , CM000679.1:g.37881058T>A	GRCh37
NC_000017.9:g.35134584T>A	NCBI36
NG_007503.1:g.41666T>A , LRG_724:g.41666T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.2387T>A MANE Select	ENSP00000269571.4:p.Leu796Gln
ENST00000269571.9:c.2387T>A	ENSP00000269571.4:p.Leu796Gln
ENST00000406381.6:c.2297T>A	ENSP00000385185.2:p.Leu766Gln
ENST00000445658.6:c.1559T>A	ENSP00000404047.2:p.Leu520Gln
ENST00000541774.5:c.2342T>A	ENSP00000446466.1:p.Leu781Gln
ENST00000578373.5:c.*2177T>A	ENSP00000463427.1:n.*2177T>A
ENST00000580074.1:c.493T>A
ENST00000583038.5:n.3521T>A
ENST00000584450.5:c.2387T>A	ENSP00000463714.1:p.Leu796Gln
ENST00000584601.5:c.2297T>A	ENSP00000462438.1:p.Leu766Gln
NM_001005862.2:c.2297T>A , LRG_724t1:c.2297T>A	NP_001005862.1:p.Leu766Gln
NM_001289936.1:c.2342T>A , LRG_724t4:c.2342T>A	NP_001276865.1:p.Leu781Gln
NM_001289937.1:c.2387T>A	NP_001276866.1:p.Leu796Gln
NM_004448.3:c.2387T>A , LRG_724t2:c.2387T>A	NP_004439.2:p.Leu796Gln
NR_110535.1:n.2711T>A
XM_024450641.1:c.2525T>A	XP_024306409.1:p.Leu842Gln
XM_024450642.1:c.2480T>A	XP_024306410.1:p.Leu827Gln
XM_024450643.1:c.2435T>A	XP_024306411.1:p.Leu812Gln
NM_001005862.3:c.2297T>A	NP_001005862.1:p.Leu766Gln
NM_001289936.2:c.2342T>A	NP_001276865.1:p.Leu781Gln
NM_001289937.2:c.2387T>A	NP_001276866.1:p.Leu796Gln
NM_001382782.1:c.2297T>A	NP_001369711.1:p.Leu766Gln
NM_001382783.1:c.2297T>A	NP_001369712.1:p.Leu766Gln
NM_001382784.1:c.2504T>A	NP_001369713.1:p.Leu835Gln
NM_001382785.1:c.2489T>A	NP_001369714.1:p.Leu830Gln
NM_001382786.1:c.2468T>A	NP_001369715.1:p.Leu823Gln
NM_001382787.1:c.2462T>A	NP_001369716.1:p.Leu821Gln
NM_001382788.1:c.2417T>A	NP_001369717.1:p.Leu806Gln
NM_001382789.1:c.2408T>A	NP_001369718.1:p.Leu803Gln
NM_001382790.1:c.2384T>A	NP_001369719.1:p.Leu795Gln
NM_001382791.1:c.2378T>A	NP_001369720.1:p.Leu793Gln
NM_001382792.1:c.2351T>A	NP_001369721.1:p.Leu784Gln
NM_001382793.1:c.2345T>A	NP_001369722.1:p.Leu782Gln
NM_001382794.1:c.2345T>A	NP_001369723.1:p.Leu782Gln
NM_001382795.1:c.2339T>A	NP_001369724.1:p.Leu780Gln
NM_001382796.1:c.2387T>A	NP_001369725.1:p.Leu796Gln
NM_001382797.1:c.2288T>A	NP_001369726.1:p.Leu763Gln
NM_001382798.1:c.2387T>A	NP_001369727.1:p.Leu796Gln
NM_001382799.1:c.2207T>A	NP_001369728.1:p.Leu736Gln
NM_001382800.1:c.2308-244T>A	NP_001369729.1:n.2308-244T>A
NM_001382801.1:c.2339T>A	NP_001369730.1:p.Leu780Gln
NM_001382802.1:c.2129T>A	NP_001369731.1:p.Leu710Gln
NM_001382803.1:c.2345T>A	NP_001369732.1:p.Leu782Gln
NM_001382804.1:c.1559T>A	NP_001369733.1:p.Leu520Gln
NM_001382805.1:c.2208+1145T>A	NP_001369734.1:n.2208+1145T>A
NM_001382806.1:c.1349T>A	NP_001369735.1:p.Leu450Gln
NM_004448.4:c.2387T>A MANE Select	NP_004439.2:p.Leu796Gln
NR_110535.2:n.2625T>A