Canonical Allele Identifier: CA399313485
Gene: ERBB2 HGNC NCBI

Linked Data

dbSNP Id: rs2143300985

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39727824A>C , CM000679.2:g.39727824A>C GRCh38
NC_000017.10:g.37884077A>C , CM000679.1:g.37884077A>C GRCh37
NC_000017.9:g.35137603A>C NCBI36
NG_007503.1:g.44685A>C , LRG_724:g.44685A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000269571.10:c.3548A>C MANE Select ENSP00000269571.4:p.Asp1183Ala
ENST00000269571.9:c.3548A>C ENSP00000269571.4:p.Asp1183Ala
ENST00000406381.6:c.3458A>C ENSP00000385185.2:p.Asp1153Ala
ENST00000445658.6:c.2720A>C ENSP00000404047.2:p.Asp907Ala
ENST00000541774.5:c.3503A>C ENSP00000446466.1:p.Asp1168Ala
ENST00000578373.5:c.*3338A>C ENSP00000463427.1:n.*3338A>C
ENST00000584450.5:c.*127A>C ENSP00000463714.1:n.*127A>C
ENST00000584601.5:c.3458A>C ENSP00000462438.1:p.Asp1153Ala
NM_001005862.2:c.3458A>C , LRG_724t1:c.3458A>C NP_001005862.1:p.Asp1153Ala
NM_001289936.1:c.3503A>C , LRG_724t4:c.3503A>C NP_001276865.1:p.Asp1168Ala
NM_001289937.1:c.*127A>C NP_001276866.1:n.*127A>C
NM_004448.3:c.3548A>C , LRG_724t2:c.3548A>C NP_004439.2:p.Asp1183Ala
NR_110535.1:n.3872A>C
XM_024450641.1:c.3686A>C XP_024306409.1:p.Asp1229Ala
XM_024450642.1:c.3641A>C XP_024306410.1:p.Asp1214Ala
XM_024450643.1:c.3596A>C XP_024306411.1:p.Asp1199Ala
NM_001005862.3:c.3458A>C NP_001005862.1:p.Asp1153Ala
NM_001289936.2:c.3503A>C NP_001276865.1:p.Asp1168Ala
NM_001289937.2:c.*127A>C NP_001276866.1:n.*127A>C
NM_001382782.1:c.3458A>C NP_001369711.1:p.Asp1153Ala
NM_001382783.1:c.3458A>C NP_001369712.1:p.Asp1153Ala
NM_001382784.1:c.3665A>C NP_001369713.1:p.Asp1222Ala
NM_001382785.1:c.3650A>C NP_001369714.1:p.Asp1217Ala
NM_001382786.1:c.3629A>C NP_001369715.1:p.Asp1210Ala
NM_001382787.1:c.3623A>C NP_001369716.1:p.Asp1208Ala
NM_001382788.1:c.3578A>C NP_001369717.1:p.Asp1193Ala
NM_001382789.1:c.3569A>C NP_001369718.1:p.Asp1190Ala
NM_001382790.1:c.3545A>C NP_001369719.1:p.Asp1182Ala
NM_001382791.1:c.3539A>C NP_001369720.1:p.Asp1180Ala
NM_001382792.1:c.3512A>C NP_001369721.1:p.Asp1171Ala
NM_001382793.1:c.3506A>C NP_001369722.1:p.Asp1169Ala
NM_001382794.1:c.3506A>C NP_001369723.1:p.Asp1169Ala
NM_001382795.1:c.3500A>C NP_001369724.1:p.Asp1167Ala
NM_001382796.1:c.3461A>C NP_001369725.1:p.Asp1154Ala
NM_001382797.1:c.3449A>C NP_001369726.1:p.Asp1150Ala
NM_001382798.1:c.3392A>C NP_001369727.1:p.Asp1131Ala
NM_001382799.1:c.3368A>C NP_001369728.1:p.Asp1123Ala
NM_001382800.1:c.3362A>C NP_001369729.1:p.Asp1121Ala
NM_001382801.1:c.3344A>C NP_001369730.1:p.Asp1115Ala
NM_001382802.1:c.3290A>C NP_001369731.1:p.Asp1097Ala
NM_001382803.1:c.*127A>C NP_001369732.1:n.*127A>C
NM_001382804.1:c.2720A>C NP_001369733.1:p.Asp907Ala
NM_001382805.1:c.2597A>C NP_001369734.1:p.Asp866Ala
NM_001382806.1:c.2510A>C NP_001369735.1:p.Asp837Ala
NM_004448.4:c.3548A>C MANE Select NP_004439.2:p.Asp1183Ala
NR_110535.2:n.3786A>C