Canonical Allele Identifier: CA399313833
Gene: ERBB2 HGNC NCBI

Linked Data

dbSNP Id: rs2143305804

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000269571.10:c.3592A>G MANE Select ENSP00000269571.4:p.Thr1198Ala
ENST00000269571.9:c.3592A>G ENSP00000269571.4:p.Thr1198Ala
ENST00000406381.6:c.3502A>G ENSP00000385185.2:p.Thr1168Ala
ENST00000445658.6:c.2764A>G ENSP00000404047.2:p.Thr922Ala
ENST00000541774.5:c.3547A>G ENSP00000446466.1:p.Thr1183Ala
ENST00000578373.5:c.*3382A>G ENSP00000463427.1:n.*3382A>G
ENST00000584450.5:c.*171A>G ENSP00000463714.1:n.*171A>G
ENST00000584601.5:c.3502A>G ENSP00000462438.1:p.Thr1168Ala
NM_001005862.2:c.3502A>G , LRG_724t1:c.3502A>G NP_001005862.1:p.Thr1168Ala
NM_001289936.1:c.3547A>G , LRG_724t4:c.3547A>G NP_001276865.1:p.Thr1183Ala
NM_001289937.1:c.*171A>G NP_001276866.1:n.*171A>G
NM_004448.3:c.3592A>G , LRG_724t2:c.3592A>G NP_004439.2:p.Thr1198Ala
NR_110535.1:n.3916A>G
XM_024450641.1:c.3730A>G XP_024306409.1:p.Thr1244Ala
XM_024450642.1:c.3685A>G XP_024306410.1:p.Thr1229Ala
XM_024450643.1:c.3640A>G XP_024306411.1:p.Thr1214Ala
NM_001005862.3:c.3502A>G NP_001005862.1:p.Thr1168Ala
NM_001289936.2:c.3547A>G NP_001276865.1:p.Thr1183Ala
NM_001289937.2:c.*171A>G NP_001276866.1:n.*171A>G
NM_001382782.1:c.3502A>G NP_001369711.1:p.Thr1168Ala
NM_001382783.1:c.3502A>G NP_001369712.1:p.Thr1168Ala
NM_001382784.1:c.3709A>G NP_001369713.1:p.Thr1237Ala
NM_001382785.1:c.3694A>G NP_001369714.1:p.Thr1232Ala
NM_001382786.1:c.3673A>G NP_001369715.1:p.Thr1225Ala
NM_001382787.1:c.3667A>G NP_001369716.1:p.Thr1223Ala
NM_001382788.1:c.3622A>G NP_001369717.1:p.Thr1208Ala
NM_001382789.1:c.3613A>G NP_001369718.1:p.Thr1205Ala
NM_001382790.1:c.3589A>G NP_001369719.1:p.Thr1197Ala
NM_001382791.1:c.3583A>G NP_001369720.1:p.Thr1195Ala
NM_001382792.1:c.3556A>G NP_001369721.1:p.Thr1186Ala
NM_001382793.1:c.3550A>G NP_001369722.1:p.Thr1184Ala
NM_001382794.1:c.3550A>G NP_001369723.1:p.Thr1184Ala
NM_001382795.1:c.3544A>G NP_001369724.1:p.Thr1182Ala
NM_001382796.1:c.3505A>G NP_001369725.1:p.Thr1169Ala
NM_001382797.1:c.3493A>G NP_001369726.1:p.Thr1165Ala
NM_001382798.1:c.3436A>G NP_001369727.1:p.Thr1146Ala
NM_001382799.1:c.3412A>G NP_001369728.1:p.Thr1138Ala
NM_001382800.1:c.3406A>G NP_001369729.1:p.Thr1136Ala
NM_001382801.1:c.3388A>G NP_001369730.1:p.Thr1130Ala
NM_001382802.1:c.3334A>G NP_001369731.1:p.Thr1112Ala
NM_001382803.1:c.*171A>G NP_001369732.1:n.*171A>G
NM_001382804.1:c.2764A>G NP_001369733.1:p.Thr922Ala
NM_001382805.1:c.2641A>G NP_001369734.1:p.Thr881Ala
NM_001382806.1:c.2554A>G NP_001369735.1:p.Thr852Ala
NM_004448.4:c.3592A>G MANE Select NP_004439.2:p.Thr1198Ala
NR_110535.2:n.3830A>G