Canonical Allele Identifier: CA399312994
Gene: ERBB2 HGNC NCBI

Linked Data

dbSNP Id: rs2143292663

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39727751G>C , CM000679.2:g.39727751G>C GRCh38
NC_000017.10:g.37884004G>C , CM000679.1:g.37884004G>C GRCh37
NC_000017.9:g.35137530G>C NCBI36
NG_007503.1:g.44612G>C , LRG_724:g.44612G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000269571.10:c.3475G>C MANE Select ENSP00000269571.4:p.Ala1159Pro
ENST00000269571.9:c.3475G>C ENSP00000269571.4:p.Ala1159Pro
ENST00000406381.6:c.3385G>C ENSP00000385185.2:p.Ala1129Pro
ENST00000445658.6:c.2647G>C ENSP00000404047.2:p.Ala883Pro
ENST00000541774.5:c.3430G>C ENSP00000446466.1:p.Ala1144Pro
ENST00000578373.5:c.*3265G>C ENSP00000463427.1:n.*3265G>C
ENST00000584450.5:c.*54G>C ENSP00000463714.1:n.*54G>C
ENST00000584601.5:c.3385G>C ENSP00000462438.1:p.Ala1129Pro
NM_001005862.2:c.3385G>C , LRG_724t1:c.3385G>C NP_001005862.1:p.Ala1129Pro
NM_001289936.1:c.3430G>C , LRG_724t4:c.3430G>C NP_001276865.1:p.Ala1144Pro
NM_001289937.1:c.*54G>C NP_001276866.1:n.*54G>C
NM_004448.3:c.3475G>C , LRG_724t2:c.3475G>C NP_004439.2:p.Ala1159Pro
NR_110535.1:n.3799G>C
XM_024450641.1:c.3613G>C XP_024306409.1:p.Ala1205Pro
XM_024450642.1:c.3568G>C XP_024306410.1:p.Ala1190Pro
XM_024450643.1:c.3523G>C XP_024306411.1:p.Ala1175Pro
NM_001005862.3:c.3385G>C NP_001005862.1:p.Ala1129Pro
NM_001289936.2:c.3430G>C NP_001276865.1:p.Ala1144Pro
NM_001289937.2:c.*54G>C NP_001276866.1:n.*54G>C
NM_001382782.1:c.3385G>C NP_001369711.1:p.Ala1129Pro
NM_001382783.1:c.3385G>C NP_001369712.1:p.Ala1129Pro
NM_001382784.1:c.3592G>C NP_001369713.1:p.Ala1198Pro
NM_001382785.1:c.3577G>C NP_001369714.1:p.Ala1193Pro
NM_001382786.1:c.3556G>C NP_001369715.1:p.Ala1186Pro
NM_001382787.1:c.3550G>C NP_001369716.1:p.Ala1184Pro
NM_001382788.1:c.3505G>C NP_001369717.1:p.Ala1169Pro
NM_001382789.1:c.3496G>C NP_001369718.1:p.Ala1166Pro
NM_001382790.1:c.3472G>C NP_001369719.1:p.Ala1158Pro
NM_001382791.1:c.3466G>C NP_001369720.1:p.Ala1156Pro
NM_001382792.1:c.3439G>C NP_001369721.1:p.Ala1147Pro
NM_001382793.1:c.3433G>C NP_001369722.1:p.Ala1145Pro
NM_001382794.1:c.3433G>C NP_001369723.1:p.Ala1145Pro
NM_001382795.1:c.3427G>C NP_001369724.1:p.Ala1143Pro
NM_001382796.1:c.3388G>C NP_001369725.1:p.Ala1130Pro
NM_001382797.1:c.3376G>C NP_001369726.1:p.Ala1126Pro
NM_001382798.1:c.3319G>C NP_001369727.1:p.Ala1107Pro
NM_001382799.1:c.3295G>C NP_001369728.1:p.Ala1099Pro
NM_001382800.1:c.3289G>C NP_001369729.1:p.Ala1097Pro
NM_001382801.1:c.3271G>C NP_001369730.1:p.Ala1091Pro
NM_001382802.1:c.3217G>C NP_001369731.1:p.Ala1073Pro
NM_001382803.1:c.*54G>C NP_001369732.1:n.*54G>C
NM_001382804.1:c.2647G>C NP_001369733.1:p.Ala883Pro
NM_001382805.1:c.2524G>C NP_001369734.1:p.Ala842Pro
NM_001382806.1:c.2437G>C NP_001369735.1:p.Ala813Pro
NM_004448.4:c.3475G>C MANE Select NP_004439.2:p.Ala1159Pro
NR_110535.2:n.3713G>C