Canonical Allele Identifier: CA399312892
Gene: ERBB2 HGNC NCBI

Linked Data

dbSNP Id: rs2143289735

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39727722C>T , CM000679.2:g.39727722C>T GRCh38
NC_000017.10:g.37883975C>T , CM000679.1:g.37883975C>T GRCh37
NC_000017.9:g.35137501C>T NCBI36
NG_007503.1:g.44583C>T , LRG_724:g.44583C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000269571.10:c.3446C>T MANE Select ENSP00000269571.4:p.Pro1149Leu
ENST00000269571.9:c.3446C>T ENSP00000269571.4:p.Pro1149Leu
ENST00000406381.6:c.3356C>T ENSP00000385185.2:p.Pro1119Leu
ENST00000445658.6:c.2618C>T ENSP00000404047.2:p.Pro873Leu
ENST00000541774.5:c.3401C>T ENSP00000446466.1:p.Pro1134Leu
ENST00000578373.5:c.*3236C>T ENSP00000463427.1:n.*3236C>T
ENST00000584450.5:c.*25C>T ENSP00000463714.1:n.*25C>T
ENST00000584601.5:c.3356C>T ENSP00000462438.1:p.Pro1119Leu
NM_001005862.2:c.3356C>T , LRG_724t1:c.3356C>T NP_001005862.1:p.Pro1119Leu
NM_001289936.1:c.3401C>T , LRG_724t4:c.3401C>T NP_001276865.1:p.Pro1134Leu
NM_001289937.1:c.*25C>T NP_001276866.1:n.*25C>T
NM_004448.3:c.3446C>T , LRG_724t2:c.3446C>T NP_004439.2:p.Pro1149Leu
NR_110535.1:n.3770C>T
XM_024450641.1:c.3584C>T XP_024306409.1:p.Pro1195Leu
XM_024450642.1:c.3539C>T XP_024306410.1:p.Pro1180Leu
XM_024450643.1:c.3494C>T XP_024306411.1:p.Pro1165Leu
NM_001005862.3:c.3356C>T NP_001005862.1:p.Pro1119Leu
NM_001289936.2:c.3401C>T NP_001276865.1:p.Pro1134Leu
NM_001289937.2:c.*25C>T NP_001276866.1:n.*25C>T
NM_001382782.1:c.3356C>T NP_001369711.1:p.Pro1119Leu
NM_001382783.1:c.3356C>T NP_001369712.1:p.Pro1119Leu
NM_001382784.1:c.3563C>T NP_001369713.1:p.Pro1188Leu
NM_001382785.1:c.3548C>T NP_001369714.1:p.Pro1183Leu
NM_001382786.1:c.3527C>T NP_001369715.1:p.Pro1176Leu
NM_001382787.1:c.3521C>T NP_001369716.1:p.Pro1174Leu
NM_001382788.1:c.3476C>T NP_001369717.1:p.Pro1159Leu
NM_001382789.1:c.3467C>T NP_001369718.1:p.Pro1156Leu
NM_001382790.1:c.3443C>T NP_001369719.1:p.Pro1148Leu
NM_001382791.1:c.3437C>T NP_001369720.1:p.Pro1146Leu
NM_001382792.1:c.3410C>T NP_001369721.1:p.Pro1137Leu
NM_001382793.1:c.3404C>T NP_001369722.1:p.Pro1135Leu
NM_001382794.1:c.3404C>T NP_001369723.1:p.Pro1135Leu
NM_001382795.1:c.3398C>T NP_001369724.1:p.Pro1133Leu
NM_001382796.1:c.3359C>T NP_001369725.1:p.Pro1120Leu
NM_001382797.1:c.3347C>T NP_001369726.1:p.Pro1116Leu
NM_001382798.1:c.3290C>T NP_001369727.1:p.Pro1097Leu
NM_001382799.1:c.3266C>T NP_001369728.1:p.Pro1089Leu
NM_001382800.1:c.3260C>T NP_001369729.1:p.Pro1087Leu
NM_001382801.1:c.3242C>T NP_001369730.1:p.Pro1081Leu
NM_001382802.1:c.3188C>T NP_001369731.1:p.Pro1063Leu
NM_001382803.1:c.*25C>T NP_001369732.1:n.*25C>T
NM_001382804.1:c.2618C>T NP_001369733.1:p.Pro873Leu
NM_001382805.1:c.2495C>T NP_001369734.1:p.Pro832Leu
NM_001382806.1:c.2408C>T NP_001369735.1:p.Pro803Leu
NM_004448.4:c.3446C>T MANE Select NP_004439.2:p.Pro1149Leu
NR_110535.2:n.3684C>T