Canonical Allele Identifier: CA399303194
Gene: ERBB2 HGNC NCBI

Linked Data

dbSNP Id: rs2059658576

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39724804C>A , CM000679.2:g.39724804C>A GRCh38
NC_000017.10:g.37881057C>A , CM000679.1:g.37881057C>A GRCh37
NC_000017.9:g.35134583C>A NCBI36
NG_007503.1:g.41665C>A , LRG_724:g.41665C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000269571.10:c.2386C>A MANE Select ENSP00000269571.4:p.Leu796Met
ENST00000269571.9:c.2386C>A ENSP00000269571.4:p.Leu796Met
ENST00000406381.6:c.2296C>A ENSP00000385185.2:p.Leu766Met
ENST00000445658.6:c.1558C>A ENSP00000404047.2:p.Leu520Met
ENST00000541774.5:c.2341C>A ENSP00000446466.1:p.Leu781Met
ENST00000578373.5:c.*2176C>A ENSP00000463427.1:n.*2176C>A
ENST00000580074.1:c.492C>A
ENST00000583038.5:n.3520C>A
ENST00000584450.5:c.2386C>A ENSP00000463714.1:p.Leu796Met
ENST00000584601.5:c.2296C>A ENSP00000462438.1:p.Leu766Met
NM_001005862.2:c.2296C>A , LRG_724t1:c.2296C>A NP_001005862.1:p.Leu766Met
NM_001289936.1:c.2341C>A , LRG_724t4:c.2341C>A NP_001276865.1:p.Leu781Met
NM_001289937.1:c.2386C>A NP_001276866.1:p.Leu796Met
NM_004448.3:c.2386C>A , LRG_724t2:c.2386C>A NP_004439.2:p.Leu796Met
NR_110535.1:n.2710C>A
XM_024450641.1:c.2524C>A XP_024306409.1:p.Leu842Met
XM_024450642.1:c.2479C>A XP_024306410.1:p.Leu827Met
XM_024450643.1:c.2434C>A XP_024306411.1:p.Leu812Met
NM_001005862.3:c.2296C>A NP_001005862.1:p.Leu766Met
NM_001289936.2:c.2341C>A NP_001276865.1:p.Leu781Met
NM_001289937.2:c.2386C>A NP_001276866.1:p.Leu796Met
NM_001382782.1:c.2296C>A NP_001369711.1:p.Leu766Met
NM_001382783.1:c.2296C>A NP_001369712.1:p.Leu766Met
NM_001382784.1:c.2503C>A NP_001369713.1:p.Leu835Met
NM_001382785.1:c.2488C>A NP_001369714.1:p.Leu830Met
NM_001382786.1:c.2467C>A NP_001369715.1:p.Leu823Met
NM_001382787.1:c.2461C>A NP_001369716.1:p.Leu821Met
NM_001382788.1:c.2416C>A NP_001369717.1:p.Leu806Met
NM_001382789.1:c.2407C>A NP_001369718.1:p.Leu803Met
NM_001382790.1:c.2383C>A NP_001369719.1:p.Leu795Met
NM_001382791.1:c.2377C>A NP_001369720.1:p.Leu793Met
NM_001382792.1:c.2350C>A NP_001369721.1:p.Leu784Met
NM_001382793.1:c.2344C>A NP_001369722.1:p.Leu782Met
NM_001382794.1:c.2344C>A NP_001369723.1:p.Leu782Met
NM_001382795.1:c.2338C>A NP_001369724.1:p.Leu780Met
NM_001382796.1:c.2386C>A NP_001369725.1:p.Leu796Met
NM_001382797.1:c.2287C>A NP_001369726.1:p.Leu763Met
NM_001382798.1:c.2386C>A NP_001369727.1:p.Leu796Met
NM_001382799.1:c.2206C>A NP_001369728.1:p.Leu736Met
NM_001382800.1:c.2308-245C>A NP_001369729.1:n.2308-245C>A
NM_001382801.1:c.2338C>A NP_001369730.1:p.Leu780Met
NM_001382802.1:c.2128C>A NP_001369731.1:p.Leu710Met
NM_001382803.1:c.2344C>A NP_001369732.1:p.Leu782Met
NM_001382804.1:c.1558C>A NP_001369733.1:p.Leu520Met
NM_001382805.1:c.2208+1144C>A NP_001369734.1:n.2208+1144C>A
NM_001382806.1:c.1348C>A NP_001369735.1:p.Leu450Met
NM_004448.4:c.2386C>A MANE Select NP_004439.2:p.Leu796Met
NR_110535.2:n.2624C>A