Canonical Allele Identifier: CA399312897
Gene: ERBB2 HGNC NCBI

Linked Data

dbSNP Id: rs2143290101

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39727725C>T , CM000679.2:g.39727725C>T GRCh38
NC_000017.10:g.37883978C>T , CM000679.1:g.37883978C>T GRCh37
NC_000017.9:g.35137504C>T NCBI36
NG_007503.1:g.44586C>T , LRG_724:g.44586C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000269571.10:c.3449C>T MANE Select ENSP00000269571.4:p.Pro1150Leu
ENST00000269571.9:c.3449C>T ENSP00000269571.4:p.Pro1150Leu
ENST00000406381.6:c.3359C>T ENSP00000385185.2:p.Pro1120Leu
ENST00000445658.6:c.2621C>T ENSP00000404047.2:p.Pro874Leu
ENST00000541774.5:c.3404C>T ENSP00000446466.1:p.Pro1135Leu
ENST00000578373.5:c.*3239C>T ENSP00000463427.1:n.*3239C>T
ENST00000584450.5:c.*28C>T ENSP00000463714.1:n.*28C>T
ENST00000584601.5:c.3359C>T ENSP00000462438.1:p.Pro1120Leu
NM_001005862.2:c.3359C>T , LRG_724t1:c.3359C>T NP_001005862.1:p.Pro1120Leu
NM_001289936.1:c.3404C>T , LRG_724t4:c.3404C>T NP_001276865.1:p.Pro1135Leu
NM_001289937.1:c.*28C>T NP_001276866.1:n.*28C>T
NM_004448.3:c.3449C>T , LRG_724t2:c.3449C>T NP_004439.2:p.Pro1150Leu
NR_110535.1:n.3773C>T
XM_024450641.1:c.3587C>T XP_024306409.1:p.Pro1196Leu
XM_024450642.1:c.3542C>T XP_024306410.1:p.Pro1181Leu
XM_024450643.1:c.3497C>T XP_024306411.1:p.Pro1166Leu
NM_001005862.3:c.3359C>T NP_001005862.1:p.Pro1120Leu
NM_001289936.2:c.3404C>T NP_001276865.1:p.Pro1135Leu
NM_001289937.2:c.*28C>T NP_001276866.1:n.*28C>T
NM_001382782.1:c.3359C>T NP_001369711.1:p.Pro1120Leu
NM_001382783.1:c.3359C>T NP_001369712.1:p.Pro1120Leu
NM_001382784.1:c.3566C>T NP_001369713.1:p.Pro1189Leu
NM_001382785.1:c.3551C>T NP_001369714.1:p.Pro1184Leu
NM_001382786.1:c.3530C>T NP_001369715.1:p.Pro1177Leu
NM_001382787.1:c.3524C>T NP_001369716.1:p.Pro1175Leu
NM_001382788.1:c.3479C>T NP_001369717.1:p.Pro1160Leu
NM_001382789.1:c.3470C>T NP_001369718.1:p.Pro1157Leu
NM_001382790.1:c.3446C>T NP_001369719.1:p.Pro1149Leu
NM_001382791.1:c.3440C>T NP_001369720.1:p.Pro1147Leu
NM_001382792.1:c.3413C>T NP_001369721.1:p.Pro1138Leu
NM_001382793.1:c.3407C>T NP_001369722.1:p.Pro1136Leu
NM_001382794.1:c.3407C>T NP_001369723.1:p.Pro1136Leu
NM_001382795.1:c.3401C>T NP_001369724.1:p.Pro1134Leu
NM_001382796.1:c.3362C>T NP_001369725.1:p.Pro1121Leu
NM_001382797.1:c.3350C>T NP_001369726.1:p.Pro1117Leu
NM_001382798.1:c.3293C>T NP_001369727.1:p.Pro1098Leu
NM_001382799.1:c.3269C>T NP_001369728.1:p.Pro1090Leu
NM_001382800.1:c.3263C>T NP_001369729.1:p.Pro1088Leu
NM_001382801.1:c.3245C>T NP_001369730.1:p.Pro1082Leu
NM_001382802.1:c.3191C>T NP_001369731.1:p.Pro1064Leu
NM_001382803.1:c.*28C>T NP_001369732.1:n.*28C>T
NM_001382804.1:c.2621C>T NP_001369733.1:p.Pro874Leu
NM_001382805.1:c.2498C>T NP_001369734.1:p.Pro833Leu
NM_001382806.1:c.2411C>T NP_001369735.1:p.Pro804Leu
NM_004448.4:c.3449C>T MANE Select NP_004439.2:p.Pro1150Leu
NR_110535.2:n.3687C>T