Canonical Allele Identifier: CA399314222
Gene: ERBB2 HGNC NCBI

Linked Data

dbSNP Id: rs2143311362

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39727920C>T , CM000679.2:g.39727920C>T GRCh38
NC_000017.10:g.37884173C>T , CM000679.1:g.37884173C>T GRCh37
NC_000017.9:g.35137699C>T NCBI36
NG_007503.1:g.44781C>T , LRG_724:g.44781C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000269571.10:c.3644C>T MANE Select ENSP00000269571.4:p.Pro1215Leu
ENST00000269571.9:c.3644C>T ENSP00000269571.4:p.Pro1215Leu
ENST00000406381.6:c.3554C>T ENSP00000385185.2:p.Pro1185Leu
ENST00000445658.6:c.2816C>T ENSP00000404047.2:p.Pro939Leu
ENST00000541774.5:c.3599C>T ENSP00000446466.1:p.Pro1200Leu
ENST00000578373.5:c.*3434C>T ENSP00000463427.1:n.*3434C>T
ENST00000584450.5:c.*223C>T ENSP00000463714.1:n.*223C>T
ENST00000584601.5:c.3554C>T ENSP00000462438.1:p.Pro1185Leu
NM_001005862.2:c.3554C>T , LRG_724t1:c.3554C>T NP_001005862.1:p.Pro1185Leu
NM_001289936.1:c.3599C>T , LRG_724t4:c.3599C>T NP_001276865.1:p.Pro1200Leu
NM_001289937.1:c.*223C>T NP_001276866.1:n.*223C>T
NM_004448.3:c.3644C>T , LRG_724t2:c.3644C>T NP_004439.2:p.Pro1215Leu
NR_110535.1:n.3968C>T
XM_024450641.1:c.3782C>T XP_024306409.1:p.Pro1261Leu
XM_024450642.1:c.3737C>T XP_024306410.1:p.Pro1246Leu
XM_024450643.1:c.3692C>T XP_024306411.1:p.Pro1231Leu
NM_001005862.3:c.3554C>T NP_001005862.1:p.Pro1185Leu
NM_001289936.2:c.3599C>T NP_001276865.1:p.Pro1200Leu
NM_001289937.2:c.*223C>T NP_001276866.1:n.*223C>T
NM_001382782.1:c.3554C>T NP_001369711.1:p.Pro1185Leu
NM_001382783.1:c.3554C>T NP_001369712.1:p.Pro1185Leu
NM_001382784.1:c.3761C>T NP_001369713.1:p.Pro1254Leu
NM_001382785.1:c.3746C>T NP_001369714.1:p.Pro1249Leu
NM_001382786.1:c.3725C>T NP_001369715.1:p.Pro1242Leu
NM_001382787.1:c.3719C>T NP_001369716.1:p.Pro1240Leu
NM_001382788.1:c.3674C>T NP_001369717.1:p.Pro1225Leu
NM_001382789.1:c.3665C>T NP_001369718.1:p.Pro1222Leu
NM_001382790.1:c.3641C>T NP_001369719.1:p.Pro1214Leu
NM_001382791.1:c.3635C>T NP_001369720.1:p.Pro1212Leu
NM_001382792.1:c.3608C>T NP_001369721.1:p.Pro1203Leu
NM_001382793.1:c.3602C>T NP_001369722.1:p.Pro1201Leu
NM_001382794.1:c.3602C>T NP_001369723.1:p.Pro1201Leu
NM_001382795.1:c.3596C>T NP_001369724.1:p.Pro1199Leu
NM_001382796.1:c.3557C>T NP_001369725.1:p.Pro1186Leu
NM_001382797.1:c.3545C>T NP_001369726.1:p.Pro1182Leu
NM_001382798.1:c.3488C>T NP_001369727.1:p.Pro1163Leu
NM_001382799.1:c.3464C>T NP_001369728.1:p.Pro1155Leu
NM_001382800.1:c.3458C>T NP_001369729.1:p.Pro1153Leu
NM_001382801.1:c.3440C>T NP_001369730.1:p.Pro1147Leu
NM_001382802.1:c.3386C>T NP_001369731.1:p.Pro1129Leu
NM_001382803.1:c.*223C>T NP_001369732.1:n.*223C>T
NM_001382804.1:c.2816C>T NP_001369733.1:p.Pro939Leu
NM_001382805.1:c.2693C>T NP_001369734.1:p.Pro898Leu
NM_001382806.1:c.2606C>T NP_001369735.1:p.Pro869Leu
NM_004448.4:c.3644C>T MANE Select NP_004439.2:p.Pro1215Leu
NR_110535.2:n.3882C>T