Canonical Allele Identifier: CA399313829
Gene: ERBB2 HGNC NCBI

Linked Data

dbSNP Id: rs2143305804

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39727868A>C , CM000679.2:g.39727868A>C GRCh38
NC_000017.10:g.37884121A>C , CM000679.1:g.37884121A>C GRCh37
NC_000017.9:g.35137647A>C NCBI36
NG_007503.1:g.44729A>C , LRG_724:g.44729A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000269571.10:c.3592A>C MANE Select ENSP00000269571.4:p.Thr1198Pro
ENST00000269571.9:c.3592A>C ENSP00000269571.4:p.Thr1198Pro
ENST00000406381.6:c.3502A>C ENSP00000385185.2:p.Thr1168Pro
ENST00000445658.6:c.2764A>C ENSP00000404047.2:p.Thr922Pro
ENST00000541774.5:c.3547A>C ENSP00000446466.1:p.Thr1183Pro
ENST00000578373.5:c.*3382A>C ENSP00000463427.1:n.*3382A>C
ENST00000584450.5:c.*171A>C ENSP00000463714.1:n.*171A>C
ENST00000584601.5:c.3502A>C ENSP00000462438.1:p.Thr1168Pro
NM_001005862.2:c.3502A>C , LRG_724t1:c.3502A>C NP_001005862.1:p.Thr1168Pro
NM_001289936.1:c.3547A>C , LRG_724t4:c.3547A>C NP_001276865.1:p.Thr1183Pro
NM_001289937.1:c.*171A>C NP_001276866.1:n.*171A>C
NM_004448.3:c.3592A>C , LRG_724t2:c.3592A>C NP_004439.2:p.Thr1198Pro
NR_110535.1:n.3916A>C
XM_024450641.1:c.3730A>C XP_024306409.1:p.Thr1244Pro
XM_024450642.1:c.3685A>C XP_024306410.1:p.Thr1229Pro
XM_024450643.1:c.3640A>C XP_024306411.1:p.Thr1214Pro
NM_001005862.3:c.3502A>C NP_001005862.1:p.Thr1168Pro
NM_001289936.2:c.3547A>C NP_001276865.1:p.Thr1183Pro
NM_001289937.2:c.*171A>C NP_001276866.1:n.*171A>C
NM_001382782.1:c.3502A>C NP_001369711.1:p.Thr1168Pro
NM_001382783.1:c.3502A>C NP_001369712.1:p.Thr1168Pro
NM_001382784.1:c.3709A>C NP_001369713.1:p.Thr1237Pro
NM_001382785.1:c.3694A>C NP_001369714.1:p.Thr1232Pro
NM_001382786.1:c.3673A>C NP_001369715.1:p.Thr1225Pro
NM_001382787.1:c.3667A>C NP_001369716.1:p.Thr1223Pro
NM_001382788.1:c.3622A>C NP_001369717.1:p.Thr1208Pro
NM_001382789.1:c.3613A>C NP_001369718.1:p.Thr1205Pro
NM_001382790.1:c.3589A>C NP_001369719.1:p.Thr1197Pro
NM_001382791.1:c.3583A>C NP_001369720.1:p.Thr1195Pro
NM_001382792.1:c.3556A>C NP_001369721.1:p.Thr1186Pro
NM_001382793.1:c.3550A>C NP_001369722.1:p.Thr1184Pro
NM_001382794.1:c.3550A>C NP_001369723.1:p.Thr1184Pro
NM_001382795.1:c.3544A>C NP_001369724.1:p.Thr1182Pro
NM_001382796.1:c.3505A>C NP_001369725.1:p.Thr1169Pro
NM_001382797.1:c.3493A>C NP_001369726.1:p.Thr1165Pro
NM_001382798.1:c.3436A>C NP_001369727.1:p.Thr1146Pro
NM_001382799.1:c.3412A>C NP_001369728.1:p.Thr1138Pro
NM_001382800.1:c.3406A>C NP_001369729.1:p.Thr1136Pro
NM_001382801.1:c.3388A>C NP_001369730.1:p.Thr1130Pro
NM_001382802.1:c.3334A>C NP_001369731.1:p.Thr1112Pro
NM_001382803.1:c.*171A>C NP_001369732.1:n.*171A>C
NM_001382804.1:c.2764A>C NP_001369733.1:p.Thr922Pro
NM_001382805.1:c.2641A>C NP_001369734.1:p.Thr881Pro
NM_001382806.1:c.2554A>C NP_001369735.1:p.Thr852Pro
NM_004448.4:c.3592A>C MANE Select NP_004439.2:p.Thr1198Pro
NR_110535.2:n.3830A>C