Canonical Allele Identifier: CA399310531
Gene: ERBB2 HGNC NCBI

Linked Data

dbSNP Id: rs2143242502

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39727386A>T , CM000679.2:g.39727386A>T GRCh38
NC_000017.10:g.37883639A>T , CM000679.1:g.37883639A>T GRCh37
NC_000017.9:g.35137165A>T NCBI36
NG_007503.1:g.44247A>T , LRG_724:g.44247A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000269571.10:c.3251A>T MANE Select ENSP00000269571.4:p.Asp1084Val
ENST00000269571.9:c.3251A>T ENSP00000269571.4:p.Asp1084Val
ENST00000406381.6:c.3161A>T ENSP00000385185.2:p.Asp1054Val
ENST00000445658.6:c.2423A>T ENSP00000404047.2:p.Asp808Val
ENST00000541774.5:c.3206A>T ENSP00000446466.1:p.Asp1069Val
ENST00000578373.5:c.*3041A>T ENSP00000463427.1:n.*3041A>T
ENST00000584450.5:c.3160-303A>T ENSP00000463714.1:n.3160-303A>T
ENST00000584601.5:c.3161A>T ENSP00000462438.1:p.Asp1054Val
NM_001005862.2:c.3161A>T , LRG_724t1:c.3161A>T NP_001005862.1:p.Asp1054Val
NM_001289936.1:c.3206A>T , LRG_724t4:c.3206A>T NP_001276865.1:p.Asp1069Val
NM_001289937.1:c.3160-303A>T NP_001276866.1:n.3160-303A>T
NM_004448.3:c.3251A>T , LRG_724t2:c.3251A>T NP_004439.2:p.Asp1084Val
NR_110535.1:n.3575A>T
XM_024450641.1:c.3389A>T XP_024306409.1:p.Asp1130Val
XM_024450642.1:c.3344A>T XP_024306410.1:p.Asp1115Val
XM_024450643.1:c.3299A>T XP_024306411.1:p.Asp1100Val
NM_001005862.3:c.3161A>T NP_001005862.1:p.Asp1054Val
NM_001289936.2:c.3206A>T NP_001276865.1:p.Asp1069Val
NM_001289937.2:c.3160-303A>T NP_001276866.1:n.3160-303A>T
NM_001382782.1:c.3161A>T NP_001369711.1:p.Asp1054Val
NM_001382783.1:c.3161A>T NP_001369712.1:p.Asp1054Val
NM_001382784.1:c.3368A>T NP_001369713.1:p.Asp1123Val
NM_001382785.1:c.3353A>T NP_001369714.1:p.Asp1118Val
NM_001382786.1:c.3332A>T NP_001369715.1:p.Asp1111Val
NM_001382787.1:c.3326A>T NP_001369716.1:p.Asp1109Val
NM_001382788.1:c.3281A>T NP_001369717.1:p.Asp1094Val
NM_001382789.1:c.3272A>T NP_001369718.1:p.Asp1091Val
NM_001382790.1:c.3248A>T NP_001369719.1:p.Asp1083Val
NM_001382791.1:c.3242A>T NP_001369720.1:p.Asp1081Val
NM_001382792.1:c.3215A>T NP_001369721.1:p.Asp1072Val
NM_001382793.1:c.3209A>T NP_001369722.1:p.Asp1070Val
NM_001382794.1:c.3209A>T NP_001369723.1:p.Asp1070Val
NM_001382795.1:c.3203A>T NP_001369724.1:p.Asp1068Val
NM_001382796.1:c.3164A>T NP_001369725.1:p.Asp1055Val
NM_001382797.1:c.3152A>T NP_001369726.1:p.Asp1051Val
NM_001382798.1:c.3095A>T NP_001369727.1:p.Asp1032Val
NM_001382799.1:c.3071A>T NP_001369728.1:p.Asp1024Val
NM_001382800.1:c.3065A>T NP_001369729.1:p.Asp1022Val
NM_001382801.1:c.3047A>T NP_001369730.1:p.Asp1016Val
NM_001382802.1:c.2993A>T NP_001369731.1:p.Asp998Val
NM_001382803.1:c.3118-303A>T NP_001369732.1:n.3118-303A>T
NM_001382804.1:c.2423A>T NP_001369733.1:p.Asp808Val
NM_001382805.1:c.2300A>T NP_001369734.1:p.Asp767Val
NM_001382806.1:c.2213A>T NP_001369735.1:p.Asp738Val
NM_004448.4:c.3251A>T MANE Select NP_004439.2:p.Asp1084Val
NR_110535.2:n.3489A>T