Canonical Allele Identifier: CA399312697
Gene: ERBB2 HGNC NCBI

Linked Data

dbSNP Id: rs2143255989

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39727505A>G , CM000679.2:g.39727505A>G GRCh38
NC_000017.10:g.37883758A>G , CM000679.1:g.37883758A>G GRCh37
NC_000017.9:g.35137284A>G NCBI36
NG_007503.1:g.44366A>G , LRG_724:g.44366A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000269571.10:c.3370A>G MANE Select ENSP00000269571.4:p.Thr1124Ala
ENST00000269571.9:c.3370A>G ENSP00000269571.4:p.Thr1124Ala
ENST00000406381.6:c.3280A>G ENSP00000385185.2:p.Thr1094Ala
ENST00000445658.6:c.2542A>G ENSP00000404047.2:p.Thr848Ala
ENST00000541774.5:c.3325A>G ENSP00000446466.1:p.Thr1109Ala
ENST00000578373.5:c.*3160A>G ENSP00000463427.1:n.*3160A>G
ENST00000584450.5:c.3160-184A>G ENSP00000463714.1:n.3160-184A>G
ENST00000584601.5:c.3280A>G ENSP00000462438.1:p.Thr1094Ala
NM_001005862.2:c.3280A>G , LRG_724t1:c.3280A>G NP_001005862.1:p.Thr1094Ala
NM_001289936.1:c.3325A>G , LRG_724t4:c.3325A>G NP_001276865.1:p.Thr1109Ala
NM_001289937.1:c.3160-184A>G NP_001276866.1:n.3160-184A>G
NM_004448.3:c.3370A>G , LRG_724t2:c.3370A>G NP_004439.2:p.Thr1124Ala
NR_110535.1:n.3694A>G
XM_024450641.1:c.3508A>G XP_024306409.1:p.Thr1170Ala
XM_024450642.1:c.3463A>G XP_024306410.1:p.Thr1155Ala
XM_024450643.1:c.3418A>G XP_024306411.1:p.Thr1140Ala
NM_001005862.3:c.3280A>G NP_001005862.1:p.Thr1094Ala
NM_001289936.2:c.3325A>G NP_001276865.1:p.Thr1109Ala
NM_001289937.2:c.3160-184A>G NP_001276866.1:n.3160-184A>G
NM_001382782.1:c.3280A>G NP_001369711.1:p.Thr1094Ala
NM_001382783.1:c.3280A>G NP_001369712.1:p.Thr1094Ala
NM_001382784.1:c.3487A>G NP_001369713.1:p.Thr1163Ala
NM_001382785.1:c.3472A>G NP_001369714.1:p.Thr1158Ala
NM_001382786.1:c.3451A>G NP_001369715.1:p.Thr1151Ala
NM_001382787.1:c.3445A>G NP_001369716.1:p.Thr1149Ala
NM_001382788.1:c.3400A>G NP_001369717.1:p.Thr1134Ala
NM_001382789.1:c.3391A>G NP_001369718.1:p.Thr1131Ala
NM_001382790.1:c.3367A>G NP_001369719.1:p.Thr1123Ala
NM_001382791.1:c.3361A>G NP_001369720.1:p.Thr1121Ala
NM_001382792.1:c.3334A>G NP_001369721.1:p.Thr1112Ala
NM_001382793.1:c.3328A>G NP_001369722.1:p.Thr1110Ala
NM_001382794.1:c.3328A>G NP_001369723.1:p.Thr1110Ala
NM_001382795.1:c.3322A>G NP_001369724.1:p.Thr1108Ala
NM_001382796.1:c.3283A>G NP_001369725.1:p.Thr1095Ala
NM_001382797.1:c.3271A>G NP_001369726.1:p.Thr1091Ala
NM_001382798.1:c.3214A>G NP_001369727.1:p.Thr1072Ala
NM_001382799.1:c.3190A>G NP_001369728.1:p.Thr1064Ala
NM_001382800.1:c.3184A>G NP_001369729.1:p.Thr1062Ala
NM_001382801.1:c.3166A>G NP_001369730.1:p.Thr1056Ala
NM_001382802.1:c.3112A>G NP_001369731.1:p.Thr1038Ala
NM_001382803.1:c.3118-184A>G NP_001369732.1:n.3118-184A>G
NM_001382804.1:c.2542A>G NP_001369733.1:p.Thr848Ala
NM_001382805.1:c.2419A>G NP_001369734.1:p.Thr807Ala
NM_001382806.1:c.2332A>G NP_001369735.1:p.Thr778Ala
NM_004448.4:c.3370A>G MANE Select NP_004439.2:p.Thr1124Ala
NR_110535.2:n.3608A>G