Canonical Allele Identifier: CA399312508
Gene: ERBB2 HGNC NCBI

Linked Data

dbSNP Id: rs2143250009

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39727452C>T , CM000679.2:g.39727452C>T GRCh38
NC_000017.10:g.37883705C>T , CM000679.1:g.37883705C>T GRCh37
NC_000017.9:g.35137231C>T NCBI36
NG_007503.1:g.44313C>T , LRG_724:g.44313C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000269571.10:c.3317C>T MANE Select ENSP00000269571.4:p.Pro1106Leu
ENST00000269571.9:c.3317C>T ENSP00000269571.4:p.Pro1106Leu
ENST00000406381.6:c.3227C>T ENSP00000385185.2:p.Pro1076Leu
ENST00000445658.6:c.2489C>T ENSP00000404047.2:p.Pro830Leu
ENST00000541774.5:c.3272C>T ENSP00000446466.1:p.Pro1091Leu
ENST00000578373.5:c.*3107C>T ENSP00000463427.1:n.*3107C>T
ENST00000584450.5:c.3160-237C>T ENSP00000463714.1:n.3160-237C>T
ENST00000584601.5:c.3227C>T ENSP00000462438.1:p.Pro1076Leu
NM_001005862.2:c.3227C>T , LRG_724t1:c.3227C>T NP_001005862.1:p.Pro1076Leu
NM_001289936.1:c.3272C>T , LRG_724t4:c.3272C>T NP_001276865.1:p.Pro1091Leu
NM_001289937.1:c.3160-237C>T NP_001276866.1:n.3160-237C>T
NM_004448.3:c.3317C>T , LRG_724t2:c.3317C>T NP_004439.2:p.Pro1106Leu
NR_110535.1:n.3641C>T
XM_024450641.1:c.3455C>T XP_024306409.1:p.Pro1152Leu
XM_024450642.1:c.3410C>T XP_024306410.1:p.Pro1137Leu
XM_024450643.1:c.3365C>T XP_024306411.1:p.Pro1122Leu
NM_001005862.3:c.3227C>T NP_001005862.1:p.Pro1076Leu
NM_001289936.2:c.3272C>T NP_001276865.1:p.Pro1091Leu
NM_001289937.2:c.3160-237C>T NP_001276866.1:n.3160-237C>T
NM_001382782.1:c.3227C>T NP_001369711.1:p.Pro1076Leu
NM_001382783.1:c.3227C>T NP_001369712.1:p.Pro1076Leu
NM_001382784.1:c.3434C>T NP_001369713.1:p.Pro1145Leu
NM_001382785.1:c.3419C>T NP_001369714.1:p.Pro1140Leu
NM_001382786.1:c.3398C>T NP_001369715.1:p.Pro1133Leu
NM_001382787.1:c.3392C>T NP_001369716.1:p.Pro1131Leu
NM_001382788.1:c.3347C>T NP_001369717.1:p.Pro1116Leu
NM_001382789.1:c.3338C>T NP_001369718.1:p.Pro1113Leu
NM_001382790.1:c.3314C>T NP_001369719.1:p.Pro1105Leu
NM_001382791.1:c.3308C>T NP_001369720.1:p.Pro1103Leu
NM_001382792.1:c.3281C>T NP_001369721.1:p.Pro1094Leu
NM_001382793.1:c.3275C>T NP_001369722.1:p.Pro1092Leu
NM_001382794.1:c.3275C>T NP_001369723.1:p.Pro1092Leu
NM_001382795.1:c.3269C>T NP_001369724.1:p.Pro1090Leu
NM_001382796.1:c.3230C>T NP_001369725.1:p.Pro1077Leu
NM_001382797.1:c.3218C>T NP_001369726.1:p.Pro1073Leu
NM_001382798.1:c.3161C>T NP_001369727.1:p.Pro1054Leu
NM_001382799.1:c.3137C>T NP_001369728.1:p.Pro1046Leu
NM_001382800.1:c.3131C>T NP_001369729.1:p.Pro1044Leu
NM_001382801.1:c.3113C>T NP_001369730.1:p.Pro1038Leu
NM_001382802.1:c.3059C>T NP_001369731.1:p.Pro1020Leu
NM_001382803.1:c.3118-237C>T NP_001369732.1:n.3118-237C>T
NM_001382804.1:c.2489C>T NP_001369733.1:p.Pro830Leu
NM_001382805.1:c.2366C>T NP_001369734.1:p.Pro789Leu
NM_001382806.1:c.2279C>T NP_001369735.1:p.Pro760Leu
NM_004448.4:c.3317C>T MANE Select NP_004439.2:p.Pro1106Leu
NR_110535.2:n.3555C>T