Canonical Allele Identifier: CA399314111
Gene: ERBB2 HGNC NCBI

Linked Data

dbSNP Id: rs2143309942

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39727905C>T , CM000679.2:g.39727905C>T GRCh38
NC_000017.10:g.37884158C>T , CM000679.1:g.37884158C>T GRCh37
NC_000017.9:g.35137684C>T NCBI36
NG_007503.1:g.44766C>T , LRG_724:g.44766C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000269571.10:c.3629C>T MANE Select ENSP00000269571.4:p.Pro1210Leu
ENST00000269571.9:c.3629C>T ENSP00000269571.4:p.Pro1210Leu
ENST00000406381.6:c.3539C>T ENSP00000385185.2:p.Pro1180Leu
ENST00000445658.6:c.2801C>T ENSP00000404047.2:p.Pro934Leu
ENST00000541774.5:c.3584C>T ENSP00000446466.1:p.Pro1195Leu
ENST00000578373.5:c.*3419C>T ENSP00000463427.1:n.*3419C>T
ENST00000584450.5:c.*208C>T ENSP00000463714.1:n.*208C>T
ENST00000584601.5:c.3539C>T ENSP00000462438.1:p.Pro1180Leu
NM_001005862.2:c.3539C>T , LRG_724t1:c.3539C>T NP_001005862.1:p.Pro1180Leu
NM_001289936.1:c.3584C>T , LRG_724t4:c.3584C>T NP_001276865.1:p.Pro1195Leu
NM_001289937.1:c.*208C>T NP_001276866.1:n.*208C>T
NM_004448.3:c.3629C>T , LRG_724t2:c.3629C>T NP_004439.2:p.Pro1210Leu
NR_110535.1:n.3953C>T
XM_024450641.1:c.3767C>T XP_024306409.1:p.Pro1256Leu
XM_024450642.1:c.3722C>T XP_024306410.1:p.Pro1241Leu
XM_024450643.1:c.3677C>T XP_024306411.1:p.Pro1226Leu
NM_001005862.3:c.3539C>T NP_001005862.1:p.Pro1180Leu
NM_001289936.2:c.3584C>T NP_001276865.1:p.Pro1195Leu
NM_001289937.2:c.*208C>T NP_001276866.1:n.*208C>T
NM_001382782.1:c.3539C>T NP_001369711.1:p.Pro1180Leu
NM_001382783.1:c.3539C>T NP_001369712.1:p.Pro1180Leu
NM_001382784.1:c.3746C>T NP_001369713.1:p.Pro1249Leu
NM_001382785.1:c.3731C>T NP_001369714.1:p.Pro1244Leu
NM_001382786.1:c.3710C>T NP_001369715.1:p.Pro1237Leu
NM_001382787.1:c.3704C>T NP_001369716.1:p.Pro1235Leu
NM_001382788.1:c.3659C>T NP_001369717.1:p.Pro1220Leu
NM_001382789.1:c.3650C>T NP_001369718.1:p.Pro1217Leu
NM_001382790.1:c.3626C>T NP_001369719.1:p.Pro1209Leu
NM_001382791.1:c.3620C>T NP_001369720.1:p.Pro1207Leu
NM_001382792.1:c.3593C>T NP_001369721.1:p.Pro1198Leu
NM_001382793.1:c.3587C>T NP_001369722.1:p.Pro1196Leu
NM_001382794.1:c.3587C>T NP_001369723.1:p.Pro1196Leu
NM_001382795.1:c.3581C>T NP_001369724.1:p.Pro1194Leu
NM_001382796.1:c.3542C>T NP_001369725.1:p.Pro1181Leu
NM_001382797.1:c.3530C>T NP_001369726.1:p.Pro1177Leu
NM_001382798.1:c.3473C>T NP_001369727.1:p.Pro1158Leu
NM_001382799.1:c.3449C>T NP_001369728.1:p.Pro1150Leu
NM_001382800.1:c.3443C>T NP_001369729.1:p.Pro1148Leu
NM_001382801.1:c.3425C>T NP_001369730.1:p.Pro1142Leu
NM_001382802.1:c.3371C>T NP_001369731.1:p.Pro1124Leu
NM_001382803.1:c.*208C>T NP_001369732.1:n.*208C>T
NM_001382804.1:c.2801C>T NP_001369733.1:p.Pro934Leu
NM_001382805.1:c.2678C>T NP_001369734.1:p.Pro893Leu
NM_001382806.1:c.2591C>T NP_001369735.1:p.Pro864Leu
NM_004448.4:c.3629C>T MANE Select NP_004439.2:p.Pro1210Leu
NR_110535.2:n.3867C>T