Canonical Allele Identifier: CA399310800
Gene: ERBB2 HGNC NCBI

Linked Data

dbSNP Id: rs2143247688

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39727430C>T , CM000679.2:g.39727430C>T GRCh38
NC_000017.10:g.37883683C>T , CM000679.1:g.37883683C>T GRCh37
NC_000017.9:g.35137209C>T NCBI36
NG_007503.1:g.44291C>T , LRG_724:g.44291C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000269571.10:c.3295C>T MANE Select ENSP00000269571.4:p.Gln1099Ter
ENST00000269571.9:c.3295C>T ENSP00000269571.4:p.Gln1099Ter
ENST00000406381.6:c.3205C>T ENSP00000385185.2:p.Gln1069Ter
ENST00000445658.6:c.2467C>T ENSP00000404047.2:p.Gln823Ter
ENST00000541774.5:c.3250C>T ENSP00000446466.1:p.Gln1084Ter
ENST00000578373.5:c.*3085C>T ENSP00000463427.1:n.*3085C>T
ENST00000584450.5:c.3160-259C>T ENSP00000463714.1:n.3160-259C>T
ENST00000584601.5:c.3205C>T ENSP00000462438.1:p.Gln1069Ter
NM_001005862.2:c.3205C>T , LRG_724t1:c.3205C>T NP_001005862.1:p.Gln1069Ter
NM_001289936.1:c.3250C>T , LRG_724t4:c.3250C>T NP_001276865.1:p.Gln1084Ter
NM_001289937.1:c.3160-259C>T NP_001276866.1:n.3160-259C>T
NM_004448.3:c.3295C>T , LRG_724t2:c.3295C>T NP_004439.2:p.Gln1099Ter
NR_110535.1:n.3619C>T
XM_024450641.1:c.3433C>T XP_024306409.1:p.Gln1145Ter
XM_024450642.1:c.3388C>T XP_024306410.1:p.Gln1130Ter
XM_024450643.1:c.3343C>T XP_024306411.1:p.Gln1115Ter
NM_001005862.3:c.3205C>T NP_001005862.1:p.Gln1069Ter
NM_001289936.2:c.3250C>T NP_001276865.1:p.Gln1084Ter
NM_001289937.2:c.3160-259C>T NP_001276866.1:n.3160-259C>T
NM_001382782.1:c.3205C>T NP_001369711.1:p.Gln1069Ter
NM_001382783.1:c.3205C>T NP_001369712.1:p.Gln1069Ter
NM_001382784.1:c.3412C>T NP_001369713.1:p.Gln1138Ter
NM_001382785.1:c.3397C>T NP_001369714.1:p.Gln1133Ter
NM_001382786.1:c.3376C>T NP_001369715.1:p.Gln1126Ter
NM_001382787.1:c.3370C>T NP_001369716.1:p.Gln1124Ter
NM_001382788.1:c.3325C>T NP_001369717.1:p.Gln1109Ter
NM_001382789.1:c.3316C>T NP_001369718.1:p.Gln1106Ter
NM_001382790.1:c.3292C>T NP_001369719.1:p.Gln1098Ter
NM_001382791.1:c.3286C>T NP_001369720.1:p.Gln1096Ter
NM_001382792.1:c.3259C>T NP_001369721.1:p.Gln1087Ter
NM_001382793.1:c.3253C>T NP_001369722.1:p.Gln1085Ter
NM_001382794.1:c.3253C>T NP_001369723.1:p.Gln1085Ter
NM_001382795.1:c.3247C>T NP_001369724.1:p.Gln1083Ter
NM_001382796.1:c.3208C>T NP_001369725.1:p.Gln1070Ter
NM_001382797.1:c.3196C>T NP_001369726.1:p.Gln1066Ter
NM_001382798.1:c.3139C>T NP_001369727.1:p.Gln1047Ter
NM_001382799.1:c.3115C>T NP_001369728.1:p.Gln1039Ter
NM_001382800.1:c.3109C>T NP_001369729.1:p.Gln1037Ter
NM_001382801.1:c.3091C>T NP_001369730.1:p.Gln1031Ter
NM_001382802.1:c.3037C>T NP_001369731.1:p.Gln1013Ter
NM_001382803.1:c.3118-259C>T NP_001369732.1:n.3118-259C>T
NM_001382804.1:c.2467C>T NP_001369733.1:p.Gln823Ter
NM_001382805.1:c.2344C>T NP_001369734.1:p.Gln782Ter
NM_001382806.1:c.2257C>T NP_001369735.1:p.Gln753Ter
NM_004448.4:c.3295C>T MANE Select NP_004439.2:p.Gln1099Ter
NR_110535.2:n.3533C>T