Canonical Allele Identifier: CA399303197
Gene: ERBB2 HGNC NCBI

Linked Data

dbSNP Id: rs2059658576

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000269571.10:c.2386C>G MANE Select ENSP00000269571.4:p.Leu796Val
ENST00000269571.9:c.2386C>G ENSP00000269571.4:p.Leu796Val
ENST00000406381.6:c.2296C>G ENSP00000385185.2:p.Leu766Val
ENST00000445658.6:c.1558C>G ENSP00000404047.2:p.Leu520Val
ENST00000541774.5:c.2341C>G ENSP00000446466.1:p.Leu781Val
ENST00000578373.5:c.*2176C>G ENSP00000463427.1:n.*2176C>G
ENST00000580074.1:c.492C>G
ENST00000583038.5:n.3520C>G
ENST00000584450.5:c.2386C>G ENSP00000463714.1:p.Leu796Val
ENST00000584601.5:c.2296C>G ENSP00000462438.1:p.Leu766Val
NM_001005862.2:c.2296C>G , LRG_724t1:c.2296C>G NP_001005862.1:p.Leu766Val
NM_001289936.1:c.2341C>G , LRG_724t4:c.2341C>G NP_001276865.1:p.Leu781Val
NM_001289937.1:c.2386C>G NP_001276866.1:p.Leu796Val
NM_004448.3:c.2386C>G , LRG_724t2:c.2386C>G NP_004439.2:p.Leu796Val
NR_110535.1:n.2710C>G
XM_024450641.1:c.2524C>G XP_024306409.1:p.Leu842Val
XM_024450642.1:c.2479C>G XP_024306410.1:p.Leu827Val
XM_024450643.1:c.2434C>G XP_024306411.1:p.Leu812Val
NM_001005862.3:c.2296C>G NP_001005862.1:p.Leu766Val
NM_001289936.2:c.2341C>G NP_001276865.1:p.Leu781Val
NM_001289937.2:c.2386C>G NP_001276866.1:p.Leu796Val
NM_001382782.1:c.2296C>G NP_001369711.1:p.Leu766Val
NM_001382783.1:c.2296C>G NP_001369712.1:p.Leu766Val
NM_001382784.1:c.2503C>G NP_001369713.1:p.Leu835Val
NM_001382785.1:c.2488C>G NP_001369714.1:p.Leu830Val
NM_001382786.1:c.2467C>G NP_001369715.1:p.Leu823Val
NM_001382787.1:c.2461C>G NP_001369716.1:p.Leu821Val
NM_001382788.1:c.2416C>G NP_001369717.1:p.Leu806Val
NM_001382789.1:c.2407C>G NP_001369718.1:p.Leu803Val
NM_001382790.1:c.2383C>G NP_001369719.1:p.Leu795Val
NM_001382791.1:c.2377C>G NP_001369720.1:p.Leu793Val
NM_001382792.1:c.2350C>G NP_001369721.1:p.Leu784Val
NM_001382793.1:c.2344C>G NP_001369722.1:p.Leu782Val
NM_001382794.1:c.2344C>G NP_001369723.1:p.Leu782Val
NM_001382795.1:c.2338C>G NP_001369724.1:p.Leu780Val
NM_001382796.1:c.2386C>G NP_001369725.1:p.Leu796Val
NM_001382797.1:c.2287C>G NP_001369726.1:p.Leu763Val
NM_001382798.1:c.2386C>G NP_001369727.1:p.Leu796Val
NM_001382799.1:c.2206C>G NP_001369728.1:p.Leu736Val
NM_001382800.1:c.2308-245C>G NP_001369729.1:n.2308-245C>G
NM_001382801.1:c.2338C>G NP_001369730.1:p.Leu780Val
NM_001382802.1:c.2128C>G NP_001369731.1:p.Leu710Val
NM_001382803.1:c.2344C>G NP_001369732.1:p.Leu782Val
NM_001382804.1:c.1558C>G NP_001369733.1:p.Leu520Val
NM_001382805.1:c.2208+1144C>G NP_001369734.1:n.2208+1144C>G
NM_001382806.1:c.1348C>G NP_001369735.1:p.Leu450Val
NM_004448.4:c.2386C>G MANE Select NP_004439.2:p.Leu796Val
NR_110535.2:n.2624C>G