Canonical Allele Identifier: CA399312967
Gene: ERBB2 HGNC NCBI

Linked Data

dbSNP Id: rs757037466

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39727746T>C , CM000679.2:g.39727746T>C GRCh38
NC_000017.10:g.37883999T>C , CM000679.1:g.37883999T>C GRCh37
NC_000017.9:g.35137525T>C NCBI36
NG_007503.1:g.44607T>C , LRG_724:g.44607T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000269571.10:c.3470T>C MANE Select ENSP00000269571.4:p.Leu1157Pro
ENST00000269571.9:c.3470T>C ENSP00000269571.4:p.Leu1157Pro
ENST00000406381.6:c.3380T>C ENSP00000385185.2:p.Leu1127Pro
ENST00000445658.6:c.2642T>C ENSP00000404047.2:p.Leu881Pro
ENST00000541774.5:c.3425T>C ENSP00000446466.1:p.Leu1142Pro
ENST00000578373.5:c.*3260T>C ENSP00000463427.1:n.*3260T>C
ENST00000584450.5:c.*49T>C ENSP00000463714.1:n.*49T>C
ENST00000584601.5:c.3380T>C ENSP00000462438.1:p.Leu1127Pro
NM_001005862.2:c.3380T>C , LRG_724t1:c.3380T>C NP_001005862.1:p.Leu1127Pro
NM_001289936.1:c.3425T>C , LRG_724t4:c.3425T>C NP_001276865.1:p.Leu1142Pro
NM_001289937.1:c.*49T>C NP_001276866.1:n.*49T>C
NM_004448.3:c.3470T>C , LRG_724t2:c.3470T>C NP_004439.2:p.Leu1157Pro
NR_110535.1:n.3794T>C
XM_024450641.1:c.3608T>C XP_024306409.1:p.Leu1203Pro
XM_024450642.1:c.3563T>C XP_024306410.1:p.Leu1188Pro
XM_024450643.1:c.3518T>C XP_024306411.1:p.Leu1173Pro
NM_001005862.3:c.3380T>C NP_001005862.1:p.Leu1127Pro
NM_001289936.2:c.3425T>C NP_001276865.1:p.Leu1142Pro
NM_001289937.2:c.*49T>C NP_001276866.1:n.*49T>C
NM_001382782.1:c.3380T>C NP_001369711.1:p.Leu1127Pro
NM_001382783.1:c.3380T>C NP_001369712.1:p.Leu1127Pro
NM_001382784.1:c.3587T>C NP_001369713.1:p.Leu1196Pro
NM_001382785.1:c.3572T>C NP_001369714.1:p.Leu1191Pro
NM_001382786.1:c.3551T>C NP_001369715.1:p.Leu1184Pro
NM_001382787.1:c.3545T>C NP_001369716.1:p.Leu1182Pro
NM_001382788.1:c.3500T>C NP_001369717.1:p.Leu1167Pro
NM_001382789.1:c.3491T>C NP_001369718.1:p.Leu1164Pro
NM_001382790.1:c.3467T>C NP_001369719.1:p.Leu1156Pro
NM_001382791.1:c.3461T>C NP_001369720.1:p.Leu1154Pro
NM_001382792.1:c.3434T>C NP_001369721.1:p.Leu1145Pro
NM_001382793.1:c.3428T>C NP_001369722.1:p.Leu1143Pro
NM_001382794.1:c.3428T>C NP_001369723.1:p.Leu1143Pro
NM_001382795.1:c.3422T>C NP_001369724.1:p.Leu1141Pro
NM_001382796.1:c.3383T>C NP_001369725.1:p.Leu1128Pro
NM_001382797.1:c.3371T>C NP_001369726.1:p.Leu1124Pro
NM_001382798.1:c.3314T>C NP_001369727.1:p.Leu1105Pro
NM_001382799.1:c.3290T>C NP_001369728.1:p.Leu1097Pro
NM_001382800.1:c.3284T>C NP_001369729.1:p.Leu1095Pro
NM_001382801.1:c.3266T>C NP_001369730.1:p.Leu1089Pro
NM_001382802.1:c.3212T>C NP_001369731.1:p.Leu1071Pro
NM_001382803.1:c.*49T>C NP_001369732.1:n.*49T>C
NM_001382804.1:c.2642T>C NP_001369733.1:p.Leu881Pro
NM_001382805.1:c.2519T>C NP_001369734.1:p.Leu840Pro
NM_001382806.1:c.2432T>C NP_001369735.1:p.Leu811Pro
NM_004448.4:c.3470T>C MANE Select NP_004439.2:p.Leu1157Pro
NR_110535.2:n.3708T>C