Canonical Allele Identifier: CA399310243
Gene: ERBB2 HGNC NCBI

Linked Data

dbSNP Id: rs2143236059

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39727335A>T , CM000679.2:g.39727335A>T GRCh38
NC_000017.10:g.37883588A>T , CM000679.1:g.37883588A>T GRCh37
NC_000017.9:g.35137114A>T NCBI36
NG_007503.1:g.44196A>T , LRG_724:g.44196A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000269571.10:c.3200A>T MANE Select ENSP00000269571.4:p.Glu1067Val
ENST00000269571.9:c.3200A>T ENSP00000269571.4:p.Glu1067Val
ENST00000406381.6:c.3110A>T ENSP00000385185.2:p.Glu1037Val
ENST00000445658.6:c.2372A>T ENSP00000404047.2:p.Glu791Val
ENST00000541774.5:c.3155A>T ENSP00000446466.1:p.Glu1052Val
ENST00000578373.5:c.*2990A>T ENSP00000463427.1:n.*2990A>T
ENST00000584450.5:c.3159+332A>T ENSP00000463714.1:n.3159+332A>T
ENST00000584601.5:c.3110A>T ENSP00000462438.1:p.Glu1037Val
NM_001005862.2:c.3110A>T , LRG_724t1:c.3110A>T NP_001005862.1:p.Glu1037Val
NM_001289936.1:c.3155A>T , LRG_724t4:c.3155A>T NP_001276865.1:p.Glu1052Val
NM_001289937.1:c.3159+332A>T NP_001276866.1:n.3159+332A>T
NM_004448.3:c.3200A>T , LRG_724t2:c.3200A>T NP_004439.2:p.Glu1067Val
NR_110535.1:n.3524A>T
XM_024450641.1:c.3338A>T XP_024306409.1:p.Glu1113Val
XM_024450642.1:c.3293A>T XP_024306410.1:p.Glu1098Val
XM_024450643.1:c.3248A>T XP_024306411.1:p.Glu1083Val
NM_001005862.3:c.3110A>T NP_001005862.1:p.Glu1037Val
NM_001289936.2:c.3155A>T NP_001276865.1:p.Glu1052Val
NM_001289937.2:c.3159+332A>T NP_001276866.1:n.3159+332A>T
NM_001382782.1:c.3110A>T NP_001369711.1:p.Glu1037Val
NM_001382783.1:c.3110A>T NP_001369712.1:p.Glu1037Val
NM_001382784.1:c.3317A>T NP_001369713.1:p.Glu1106Val
NM_001382785.1:c.3302A>T NP_001369714.1:p.Glu1101Val
NM_001382786.1:c.3281A>T NP_001369715.1:p.Glu1094Val
NM_001382787.1:c.3275A>T NP_001369716.1:p.Glu1092Val
NM_001382788.1:c.3230A>T NP_001369717.1:p.Glu1077Val
NM_001382789.1:c.3221A>T NP_001369718.1:p.Glu1074Val
NM_001382790.1:c.3197A>T NP_001369719.1:p.Glu1066Val
NM_001382791.1:c.3191A>T NP_001369720.1:p.Glu1064Val
NM_001382792.1:c.3164A>T NP_001369721.1:p.Glu1055Val
NM_001382793.1:c.3158A>T NP_001369722.1:p.Glu1053Val
NM_001382794.1:c.3158A>T NP_001369723.1:p.Glu1053Val
NM_001382795.1:c.3152A>T NP_001369724.1:p.Glu1051Val
NM_001382796.1:c.3113A>T NP_001369725.1:p.Glu1038Val
NM_001382797.1:c.3101A>T NP_001369726.1:p.Glu1034Val
NM_001382798.1:c.3044A>T NP_001369727.1:p.Glu1015Val
NM_001382799.1:c.3020A>T NP_001369728.1:p.Glu1007Val
NM_001382800.1:c.3014A>T NP_001369729.1:p.Glu1005Val
NM_001382801.1:c.2996A>T NP_001369730.1:p.Glu999Val
NM_001382802.1:c.2942A>T NP_001369731.1:p.Glu981Val
NM_001382803.1:c.3117+332A>T NP_001369732.1:n.3117+332A>T
NM_001382804.1:c.2372A>T NP_001369733.1:p.Glu791Val
NM_001382805.1:c.2249A>T NP_001369734.1:p.Glu750Val
NM_001382806.1:c.2162A>T NP_001369735.1:p.Glu721Val
NM_004448.4:c.3200A>T MANE Select NP_004439.2:p.Glu1067Val
NR_110535.2:n.3438A>T