Canonical Allele Identifier: CA399302937
Gene: ERBB2 HGNC NCBI

Linked Data

dbSNP Id: rs2145848646

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39724766C>T , CM000679.2:g.39724766C>T GRCh38
NC_000017.10:g.37881019C>T , CM000679.1:g.37881019C>T GRCh37
NC_000017.9:g.35134545C>T NCBI36
NG_007503.1:g.41627C>T , LRG_724:g.41627C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000269571.10:c.2348C>T MANE Select ENSP00000269571.4:p.Ser783Phe
ENST00000269571.9:c.2348C>T ENSP00000269571.4:p.Ser783Phe
ENST00000406381.6:c.2258C>T ENSP00000385185.2:p.Ser753Phe
ENST00000445658.6:c.1520C>T ENSP00000404047.2:p.Ser507Phe
ENST00000541774.5:c.2303C>T ENSP00000446466.1:p.Ser768Phe
ENST00000578373.5:c.*2138C>T ENSP00000463427.1:n.*2138C>T
ENST00000580074.1:c.454C>T
ENST00000583038.5:n.3482C>T
ENST00000584450.5:c.2348C>T ENSP00000463714.1:p.Ser783Phe
ENST00000584601.5:c.2258C>T ENSP00000462438.1:p.Ser753Phe
NM_001005862.2:c.2258C>T , LRG_724t1:c.2258C>T NP_001005862.1:p.Ser753Phe
NM_001289936.1:c.2303C>T , LRG_724t4:c.2303C>T NP_001276865.1:p.Ser768Phe
NM_001289937.1:c.2348C>T NP_001276866.1:p.Ser783Phe
NM_004448.3:c.2348C>T , LRG_724t2:c.2348C>T NP_004439.2:p.Ser783Phe
NR_110535.1:n.2672C>T
XM_024450641.1:c.2486C>T XP_024306409.1:p.Ser829Phe
XM_024450642.1:c.2441C>T XP_024306410.1:p.Ser814Phe
XM_024450643.1:c.2396C>T XP_024306411.1:p.Ser799Phe
NM_001005862.3:c.2258C>T NP_001005862.1:p.Ser753Phe
NM_001289936.2:c.2303C>T NP_001276865.1:p.Ser768Phe
NM_001289937.2:c.2348C>T NP_001276866.1:p.Ser783Phe
NM_001382782.1:c.2258C>T NP_001369711.1:p.Ser753Phe
NM_001382783.1:c.2258C>T NP_001369712.1:p.Ser753Phe
NM_001382784.1:c.2465C>T NP_001369713.1:p.Ser822Phe
NM_001382785.1:c.2450C>T NP_001369714.1:p.Ser817Phe
NM_001382786.1:c.2429C>T NP_001369715.1:p.Ser810Phe
NM_001382787.1:c.2423C>T NP_001369716.1:p.Ser808Phe
NM_001382788.1:c.2378C>T NP_001369717.1:p.Ser793Phe
NM_001382789.1:c.2369C>T NP_001369718.1:p.Ser790Phe
NM_001382790.1:c.2345C>T NP_001369719.1:p.Ser782Phe
NM_001382791.1:c.2339C>T NP_001369720.1:p.Ser780Phe
NM_001382792.1:c.2312C>T NP_001369721.1:p.Ser771Phe
NM_001382793.1:c.2306C>T NP_001369722.1:p.Ser769Phe
NM_001382794.1:c.2306C>T NP_001369723.1:p.Ser769Phe
NM_001382795.1:c.2300C>T NP_001369724.1:p.Ser767Phe
NM_001382796.1:c.2348C>T NP_001369725.1:p.Ser783Phe
NM_001382797.1:c.2249C>T NP_001369726.1:p.Ser750Phe
NM_001382798.1:c.2348C>T NP_001369727.1:p.Ser783Phe
NM_001382799.1:c.2168C>T NP_001369728.1:p.Ser723Phe
NM_001382800.1:c.2308-283C>T NP_001369729.1:n.2308-283C>T
NM_001382801.1:c.2300C>T NP_001369730.1:p.Ser767Phe
NM_001382802.1:c.2090C>T NP_001369731.1:p.Ser697Phe
NM_001382803.1:c.2306C>T NP_001369732.1:p.Ser769Phe
NM_001382804.1:c.1520C>T NP_001369733.1:p.Ser507Phe
NM_001382805.1:c.2208+1106C>T NP_001369734.1:n.2208+1106C>T
NM_001382806.1:c.1310C>T NP_001369735.1:p.Ser437Phe
NM_004448.4:c.2348C>T MANE Select NP_004439.2:p.Ser783Phe
NR_110535.2:n.2586C>T