Canonical Allele Identifier: CA399312620
Gene: ERBB2 HGNC NCBI

Linked Data

dbSNP Id: rs2059840708

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39727484A>C , CM000679.2:g.39727484A>C GRCh38
NC_000017.10:g.37883737A>C , CM000679.1:g.37883737A>C GRCh37
NC_000017.9:g.35137263A>C NCBI36
NG_007503.1:g.44345A>C , LRG_724:g.44345A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000269571.10:c.3349A>C MANE Select ENSP00000269571.4:p.Thr1117Pro
ENST00000269571.9:c.3349A>C ENSP00000269571.4:p.Thr1117Pro
ENST00000406381.6:c.3259A>C ENSP00000385185.2:p.Thr1087Pro
ENST00000445658.6:c.2521A>C ENSP00000404047.2:p.Thr841Pro
ENST00000541774.5:c.3304A>C ENSP00000446466.1:p.Thr1102Pro
ENST00000578373.5:c.*3139A>C ENSP00000463427.1:n.*3139A>C
ENST00000584450.5:c.3160-205A>C ENSP00000463714.1:n.3160-205A>C
ENST00000584601.5:c.3259A>C ENSP00000462438.1:p.Thr1087Pro
NM_001005862.2:c.3259A>C , LRG_724t1:c.3259A>C NP_001005862.1:p.Thr1087Pro
NM_001289936.1:c.3304A>C , LRG_724t4:c.3304A>C NP_001276865.1:p.Thr1102Pro
NM_001289937.1:c.3160-205A>C NP_001276866.1:n.3160-205A>C
NM_004448.3:c.3349A>C , LRG_724t2:c.3349A>C NP_004439.2:p.Thr1117Pro
NR_110535.1:n.3673A>C
XM_024450641.1:c.3487A>C XP_024306409.1:p.Thr1163Pro
XM_024450642.1:c.3442A>C XP_024306410.1:p.Thr1148Pro
XM_024450643.1:c.3397A>C XP_024306411.1:p.Thr1133Pro
NM_001005862.3:c.3259A>C NP_001005862.1:p.Thr1087Pro
NM_001289936.2:c.3304A>C NP_001276865.1:p.Thr1102Pro
NM_001289937.2:c.3160-205A>C NP_001276866.1:n.3160-205A>C
NM_001382782.1:c.3259A>C NP_001369711.1:p.Thr1087Pro
NM_001382783.1:c.3259A>C NP_001369712.1:p.Thr1087Pro
NM_001382784.1:c.3466A>C NP_001369713.1:p.Thr1156Pro
NM_001382785.1:c.3451A>C NP_001369714.1:p.Thr1151Pro
NM_001382786.1:c.3430A>C NP_001369715.1:p.Thr1144Pro
NM_001382787.1:c.3424A>C NP_001369716.1:p.Thr1142Pro
NM_001382788.1:c.3379A>C NP_001369717.1:p.Thr1127Pro
NM_001382789.1:c.3370A>C NP_001369718.1:p.Thr1124Pro
NM_001382790.1:c.3346A>C NP_001369719.1:p.Thr1116Pro
NM_001382791.1:c.3340A>C NP_001369720.1:p.Thr1114Pro
NM_001382792.1:c.3313A>C NP_001369721.1:p.Thr1105Pro
NM_001382793.1:c.3307A>C NP_001369722.1:p.Thr1103Pro
NM_001382794.1:c.3307A>C NP_001369723.1:p.Thr1103Pro
NM_001382795.1:c.3301A>C NP_001369724.1:p.Thr1101Pro
NM_001382796.1:c.3262A>C NP_001369725.1:p.Thr1088Pro
NM_001382797.1:c.3250A>C NP_001369726.1:p.Thr1084Pro
NM_001382798.1:c.3193A>C NP_001369727.1:p.Thr1065Pro
NM_001382799.1:c.3169A>C NP_001369728.1:p.Thr1057Pro
NM_001382800.1:c.3163A>C NP_001369729.1:p.Thr1055Pro
NM_001382801.1:c.3145A>C NP_001369730.1:p.Thr1049Pro
NM_001382802.1:c.3091A>C NP_001369731.1:p.Thr1031Pro
NM_001382803.1:c.3118-205A>C NP_001369732.1:n.3118-205A>C
NM_001382804.1:c.2521A>C NP_001369733.1:p.Thr841Pro
NM_001382805.1:c.2398A>C NP_001369734.1:p.Thr800Pro
NM_001382806.1:c.2311A>C NP_001369735.1:p.Thr771Pro
NM_004448.4:c.3349A>C MANE Select NP_004439.2:p.Thr1117Pro
NR_110535.2:n.3587A>C