Canonical Allele Identifier: CA399302889
Gene: ERBB2 HGNC NCBI

Linked Data

dbSNP Id: rs2145848373

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39724757C>T , CM000679.2:g.39724757C>T GRCh38
NC_000017.10:g.37881010C>T , CM000679.1:g.37881010C>T GRCh37
NC_000017.9:g.35134536C>T NCBI36
NG_007503.1:g.41618C>T , LRG_724:g.41618C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000269571.10:c.2339C>T MANE Select ENSP00000269571.4:p.Pro780Leu
ENST00000269571.9:c.2339C>T ENSP00000269571.4:p.Pro780Leu
ENST00000406381.6:c.2249C>T ENSP00000385185.2:p.Pro750Leu
ENST00000445658.6:c.1511C>T ENSP00000404047.2:p.Pro504Leu
ENST00000541774.5:c.2294C>T ENSP00000446466.1:p.Pro765Leu
ENST00000578373.5:c.*2129C>T ENSP00000463427.1:n.*2129C>T
ENST00000580074.1:c.445C>T
ENST00000583038.5:n.3473C>T
ENST00000584450.5:c.2339C>T ENSP00000463714.1:p.Pro780Leu
ENST00000584601.5:c.2249C>T ENSP00000462438.1:p.Pro750Leu
NM_001005862.2:c.2249C>T , LRG_724t1:c.2249C>T NP_001005862.1:p.Pro750Leu
NM_001289936.1:c.2294C>T , LRG_724t4:c.2294C>T NP_001276865.1:p.Pro765Leu
NM_001289937.1:c.2339C>T NP_001276866.1:p.Pro780Leu
NM_004448.3:c.2339C>T , LRG_724t2:c.2339C>T NP_004439.2:p.Pro780Leu
NR_110535.1:n.2663C>T
XM_024450641.1:c.2477C>T XP_024306409.1:p.Pro826Leu
XM_024450642.1:c.2432C>T XP_024306410.1:p.Pro811Leu
XM_024450643.1:c.2387C>T XP_024306411.1:p.Pro796Leu
NM_001005862.3:c.2249C>T NP_001005862.1:p.Pro750Leu
NM_001289936.2:c.2294C>T NP_001276865.1:p.Pro765Leu
NM_001289937.2:c.2339C>T NP_001276866.1:p.Pro780Leu
NM_001382782.1:c.2249C>T NP_001369711.1:p.Pro750Leu
NM_001382783.1:c.2249C>T NP_001369712.1:p.Pro750Leu
NM_001382784.1:c.2456C>T NP_001369713.1:p.Pro819Leu
NM_001382785.1:c.2441C>T NP_001369714.1:p.Pro814Leu
NM_001382786.1:c.2420C>T NP_001369715.1:p.Pro807Leu
NM_001382787.1:c.2414C>T NP_001369716.1:p.Pro805Leu
NM_001382788.1:c.2369C>T NP_001369717.1:p.Pro790Leu
NM_001382789.1:c.2360C>T NP_001369718.1:p.Pro787Leu
NM_001382790.1:c.2336C>T NP_001369719.1:p.Pro779Leu
NM_001382791.1:c.2330C>T NP_001369720.1:p.Pro777Leu
NM_001382792.1:c.2303C>T NP_001369721.1:p.Pro768Leu
NM_001382793.1:c.2297C>T NP_001369722.1:p.Pro766Leu
NM_001382794.1:c.2297C>T NP_001369723.1:p.Pro766Leu
NM_001382795.1:c.2291C>T NP_001369724.1:p.Pro764Leu
NM_001382796.1:c.2339C>T NP_001369725.1:p.Pro780Leu
NM_001382797.1:c.2240C>T NP_001369726.1:p.Pro747Leu
NM_001382798.1:c.2339C>T NP_001369727.1:p.Pro780Leu
NM_001382799.1:c.2159C>T NP_001369728.1:p.Pro720Leu
NM_001382800.1:c.2308-292C>T NP_001369729.1:n.2308-292C>T
NM_001382801.1:c.2291C>T NP_001369730.1:p.Pro764Leu
NM_001382802.1:c.2081C>T NP_001369731.1:p.Pro694Leu
NM_001382803.1:c.2297C>T NP_001369732.1:p.Pro766Leu
NM_001382804.1:c.1511C>T NP_001369733.1:p.Pro504Leu
NM_001382805.1:c.2208+1097C>T NP_001369734.1:n.2208+1097C>T
NM_001382806.1:c.1301C>T NP_001369735.1:p.Pro434Leu
NM_004448.4:c.2339C>T MANE Select NP_004439.2:p.Pro780Leu
NR_110535.2:n.2577C>T