Canonical Allele Identifier: CA399313816
Gene: ERBB2 HGNC NCBI

Linked Data

dbSNP Id: rs2143305390

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39727865T>G , CM000679.2:g.39727865T>G GRCh38
NC_000017.10:g.37884118T>G , CM000679.1:g.37884118T>G GRCh37
NC_000017.9:g.35137644T>G NCBI36
NG_007503.1:g.44726T>G , LRG_724:g.44726T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000269571.10:c.3589T>G MANE Select ENSP00000269571.4:p.Leu1197Val
ENST00000269571.9:c.3589T>G ENSP00000269571.4:p.Leu1197Val
ENST00000406381.6:c.3499T>G ENSP00000385185.2:p.Leu1167Val
ENST00000445658.6:c.2761T>G ENSP00000404047.2:p.Leu921Val
ENST00000541774.5:c.3544T>G ENSP00000446466.1:p.Leu1182Val
ENST00000578373.5:c.*3379T>G ENSP00000463427.1:n.*3379T>G
ENST00000584450.5:c.*168T>G ENSP00000463714.1:n.*168T>G
ENST00000584601.5:c.3499T>G ENSP00000462438.1:p.Leu1167Val
NM_001005862.2:c.3499T>G , LRG_724t1:c.3499T>G NP_001005862.1:p.Leu1167Val
NM_001289936.1:c.3544T>G , LRG_724t4:c.3544T>G NP_001276865.1:p.Leu1182Val
NM_001289937.1:c.*168T>G NP_001276866.1:n.*168T>G
NM_004448.3:c.3589T>G , LRG_724t2:c.3589T>G NP_004439.2:p.Leu1197Val
NR_110535.1:n.3913T>G
XM_024450641.1:c.3727T>G XP_024306409.1:p.Leu1243Val
XM_024450642.1:c.3682T>G XP_024306410.1:p.Leu1228Val
XM_024450643.1:c.3637T>G XP_024306411.1:p.Leu1213Val
NM_001005862.3:c.3499T>G NP_001005862.1:p.Leu1167Val
NM_001289936.2:c.3544T>G NP_001276865.1:p.Leu1182Val
NM_001289937.2:c.*168T>G NP_001276866.1:n.*168T>G
NM_001382782.1:c.3499T>G NP_001369711.1:p.Leu1167Val
NM_001382783.1:c.3499T>G NP_001369712.1:p.Leu1167Val
NM_001382784.1:c.3706T>G NP_001369713.1:p.Leu1236Val
NM_001382785.1:c.3691T>G NP_001369714.1:p.Leu1231Val
NM_001382786.1:c.3670T>G NP_001369715.1:p.Leu1224Val
NM_001382787.1:c.3664T>G NP_001369716.1:p.Leu1222Val
NM_001382788.1:c.3619T>G NP_001369717.1:p.Leu1207Val
NM_001382789.1:c.3610T>G NP_001369718.1:p.Leu1204Val
NM_001382790.1:c.3586T>G NP_001369719.1:p.Leu1196Val
NM_001382791.1:c.3580T>G NP_001369720.1:p.Leu1194Val
NM_001382792.1:c.3553T>G NP_001369721.1:p.Leu1185Val
NM_001382793.1:c.3547T>G NP_001369722.1:p.Leu1183Val
NM_001382794.1:c.3547T>G NP_001369723.1:p.Leu1183Val
NM_001382795.1:c.3541T>G NP_001369724.1:p.Leu1181Val
NM_001382796.1:c.3502T>G NP_001369725.1:p.Leu1168Val
NM_001382797.1:c.3490T>G NP_001369726.1:p.Leu1164Val
NM_001382798.1:c.3433T>G NP_001369727.1:p.Leu1145Val
NM_001382799.1:c.3409T>G NP_001369728.1:p.Leu1137Val
NM_001382800.1:c.3403T>G NP_001369729.1:p.Leu1135Val
NM_001382801.1:c.3385T>G NP_001369730.1:p.Leu1129Val
NM_001382802.1:c.3331T>G NP_001369731.1:p.Leu1111Val
NM_001382803.1:c.*168T>G NP_001369732.1:n.*168T>G
NM_001382804.1:c.2761T>G NP_001369733.1:p.Leu921Val
NM_001382805.1:c.2638T>G NP_001369734.1:p.Leu880Val
NM_001382806.1:c.2551T>G NP_001369735.1:p.Leu851Val
NM_004448.4:c.3589T>G MANE Select NP_004439.2:p.Leu1197Val
NR_110535.2:n.3827T>G