Canonical Allele Identifier: CA399313843
Gene: ERBB2 HGNC NCBI

Linked Data

dbSNP Id: rs2143305952

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39727869C>T , CM000679.2:g.39727869C>T GRCh38
NC_000017.10:g.37884122C>T , CM000679.1:g.37884122C>T GRCh37
NC_000017.9:g.35137648C>T NCBI36
NG_007503.1:g.44730C>T , LRG_724:g.44730C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000269571.10:c.3593C>T MANE Select ENSP00000269571.4:p.Thr1198Ile
ENST00000269571.9:c.3593C>T ENSP00000269571.4:p.Thr1198Ile
ENST00000406381.6:c.3503C>T ENSP00000385185.2:p.Thr1168Ile
ENST00000445658.6:c.2765C>T ENSP00000404047.2:p.Thr922Ile
ENST00000541774.5:c.3548C>T ENSP00000446466.1:p.Thr1183Ile
ENST00000578373.5:c.*3383C>T ENSP00000463427.1:n.*3383C>T
ENST00000584450.5:c.*172C>T ENSP00000463714.1:n.*172C>T
ENST00000584601.5:c.3503C>T ENSP00000462438.1:p.Thr1168Ile
NM_001005862.2:c.3503C>T , LRG_724t1:c.3503C>T NP_001005862.1:p.Thr1168Ile
NM_001289936.1:c.3548C>T , LRG_724t4:c.3548C>T NP_001276865.1:p.Thr1183Ile
NM_001289937.1:c.*172C>T NP_001276866.1:n.*172C>T
NM_004448.3:c.3593C>T , LRG_724t2:c.3593C>T NP_004439.2:p.Thr1198Ile
NR_110535.1:n.3917C>T
XM_024450641.1:c.3731C>T XP_024306409.1:p.Thr1244Ile
XM_024450642.1:c.3686C>T XP_024306410.1:p.Thr1229Ile
XM_024450643.1:c.3641C>T XP_024306411.1:p.Thr1214Ile
NM_001005862.3:c.3503C>T NP_001005862.1:p.Thr1168Ile
NM_001289936.2:c.3548C>T NP_001276865.1:p.Thr1183Ile
NM_001289937.2:c.*172C>T NP_001276866.1:n.*172C>T
NM_001382782.1:c.3503C>T NP_001369711.1:p.Thr1168Ile
NM_001382783.1:c.3503C>T NP_001369712.1:p.Thr1168Ile
NM_001382784.1:c.3710C>T NP_001369713.1:p.Thr1237Ile
NM_001382785.1:c.3695C>T NP_001369714.1:p.Thr1232Ile
NM_001382786.1:c.3674C>T NP_001369715.1:p.Thr1225Ile
NM_001382787.1:c.3668C>T NP_001369716.1:p.Thr1223Ile
NM_001382788.1:c.3623C>T NP_001369717.1:p.Thr1208Ile
NM_001382789.1:c.3614C>T NP_001369718.1:p.Thr1205Ile
NM_001382790.1:c.3590C>T NP_001369719.1:p.Thr1197Ile
NM_001382791.1:c.3584C>T NP_001369720.1:p.Thr1195Ile
NM_001382792.1:c.3557C>T NP_001369721.1:p.Thr1186Ile
NM_001382793.1:c.3551C>T NP_001369722.1:p.Thr1184Ile
NM_001382794.1:c.3551C>T NP_001369723.1:p.Thr1184Ile
NM_001382795.1:c.3545C>T NP_001369724.1:p.Thr1182Ile
NM_001382796.1:c.3506C>T NP_001369725.1:p.Thr1169Ile
NM_001382797.1:c.3494C>T NP_001369726.1:p.Thr1165Ile
NM_001382798.1:c.3437C>T NP_001369727.1:p.Thr1146Ile
NM_001382799.1:c.3413C>T NP_001369728.1:p.Thr1138Ile
NM_001382800.1:c.3407C>T NP_001369729.1:p.Thr1136Ile
NM_001382801.1:c.3389C>T NP_001369730.1:p.Thr1130Ile
NM_001382802.1:c.3335C>T NP_001369731.1:p.Thr1112Ile
NM_001382803.1:c.*172C>T NP_001369732.1:n.*172C>T
NM_001382804.1:c.2765C>T NP_001369733.1:p.Thr922Ile
NM_001382805.1:c.2642C>T NP_001369734.1:p.Thr881Ile
NM_001382806.1:c.2555C>T NP_001369735.1:p.Thr852Ile
NM_004448.4:c.3593C>T MANE Select NP_004439.2:p.Thr1198Ile
NR_110535.2:n.3831C>T