Canonical Allele Identifier: CA399313819
Gene: ERBB2 HGNC NCBI

Linked Data

dbSNP Id: rs2143305516

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39727866T>A , CM000679.2:g.39727866T>A GRCh38
NC_000017.10:g.37884119T>A , CM000679.1:g.37884119T>A GRCh37
NC_000017.9:g.35137645T>A NCBI36
NG_007503.1:g.44727T>A , LRG_724:g.44727T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000269571.10:c.3590T>A MANE Select ENSP00000269571.4:p.Leu1197Ter
ENST00000269571.9:c.3590T>A ENSP00000269571.4:p.Leu1197Ter
ENST00000406381.6:c.3500T>A ENSP00000385185.2:p.Leu1167Ter
ENST00000445658.6:c.2762T>A ENSP00000404047.2:p.Leu921Ter
ENST00000541774.5:c.3545T>A ENSP00000446466.1:p.Leu1182Ter
ENST00000578373.5:c.*3380T>A ENSP00000463427.1:n.*3380T>A
ENST00000584450.5:c.*169T>A ENSP00000463714.1:n.*169T>A
ENST00000584601.5:c.3500T>A ENSP00000462438.1:p.Leu1167Ter
NM_001005862.2:c.3500T>A , LRG_724t1:c.3500T>A NP_001005862.1:p.Leu1167Ter
NM_001289936.1:c.3545T>A , LRG_724t4:c.3545T>A NP_001276865.1:p.Leu1182Ter
NM_001289937.1:c.*169T>A NP_001276866.1:n.*169T>A
NM_004448.3:c.3590T>A , LRG_724t2:c.3590T>A NP_004439.2:p.Leu1197Ter
NR_110535.1:n.3914T>A
XM_024450641.1:c.3728T>A XP_024306409.1:p.Leu1243Ter
XM_024450642.1:c.3683T>A XP_024306410.1:p.Leu1228Ter
XM_024450643.1:c.3638T>A XP_024306411.1:p.Leu1213Ter
NM_001005862.3:c.3500T>A NP_001005862.1:p.Leu1167Ter
NM_001289936.2:c.3545T>A NP_001276865.1:p.Leu1182Ter
NM_001289937.2:c.*169T>A NP_001276866.1:n.*169T>A
NM_001382782.1:c.3500T>A NP_001369711.1:p.Leu1167Ter
NM_001382783.1:c.3500T>A NP_001369712.1:p.Leu1167Ter
NM_001382784.1:c.3707T>A NP_001369713.1:p.Leu1236Ter
NM_001382785.1:c.3692T>A NP_001369714.1:p.Leu1231Ter
NM_001382786.1:c.3671T>A NP_001369715.1:p.Leu1224Ter
NM_001382787.1:c.3665T>A NP_001369716.1:p.Leu1222Ter
NM_001382788.1:c.3620T>A NP_001369717.1:p.Leu1207Ter
NM_001382789.1:c.3611T>A NP_001369718.1:p.Leu1204Ter
NM_001382790.1:c.3587T>A NP_001369719.1:p.Leu1196Ter
NM_001382791.1:c.3581T>A NP_001369720.1:p.Leu1194Ter
NM_001382792.1:c.3554T>A NP_001369721.1:p.Leu1185Ter
NM_001382793.1:c.3548T>A NP_001369722.1:p.Leu1183Ter
NM_001382794.1:c.3548T>A NP_001369723.1:p.Leu1183Ter
NM_001382795.1:c.3542T>A NP_001369724.1:p.Leu1181Ter
NM_001382796.1:c.3503T>A NP_001369725.1:p.Leu1168Ter
NM_001382797.1:c.3491T>A NP_001369726.1:p.Leu1164Ter
NM_001382798.1:c.3434T>A NP_001369727.1:p.Leu1145Ter
NM_001382799.1:c.3410T>A NP_001369728.1:p.Leu1137Ter
NM_001382800.1:c.3404T>A NP_001369729.1:p.Leu1135Ter
NM_001382801.1:c.3386T>A NP_001369730.1:p.Leu1129Ter
NM_001382802.1:c.3332T>A NP_001369731.1:p.Leu1111Ter
NM_001382803.1:c.*169T>A NP_001369732.1:n.*169T>A
NM_001382804.1:c.2762T>A NP_001369733.1:p.Leu921Ter
NM_001382805.1:c.2639T>A NP_001369734.1:p.Leu880Ter
NM_001382806.1:c.2552T>A NP_001369735.1:p.Leu851Ter
NM_004448.4:c.3590T>A MANE Select NP_004439.2:p.Leu1197Ter
NR_110535.2:n.3828T>A