Canonical Allele Identifier: CA399310366
Gene: ERBB2 HGNC NCBI

Linked Data

dbSNP Id: rs2143238764

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39727358C>G , CM000679.2:g.39727358C>G GRCh38
NC_000017.10:g.37883611C>G , CM000679.1:g.37883611C>G GRCh37
NC_000017.9:g.35137137C>G NCBI36
NG_007503.1:g.44219C>G , LRG_724:g.44219C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000269571.10:c.3223C>G MANE Select ENSP00000269571.4:p.Leu1075Val
ENST00000269571.9:c.3223C>G ENSP00000269571.4:p.Leu1075Val
ENST00000406381.6:c.3133C>G ENSP00000385185.2:p.Leu1045Val
ENST00000445658.6:c.2395C>G ENSP00000404047.2:p.Leu799Val
ENST00000541774.5:c.3178C>G ENSP00000446466.1:p.Leu1060Val
ENST00000578373.5:c.*3013C>G ENSP00000463427.1:n.*3013C>G
ENST00000584450.5:c.3160-331C>G ENSP00000463714.1:n.3160-331C>G
ENST00000584601.5:c.3133C>G ENSP00000462438.1:p.Leu1045Val
NM_001005862.2:c.3133C>G , LRG_724t1:c.3133C>G NP_001005862.1:p.Leu1045Val
NM_001289936.1:c.3178C>G , LRG_724t4:c.3178C>G NP_001276865.1:p.Leu1060Val
NM_001289937.1:c.3160-331C>G NP_001276866.1:n.3160-331C>G
NM_004448.3:c.3223C>G , LRG_724t2:c.3223C>G NP_004439.2:p.Leu1075Val
NR_110535.1:n.3547C>G
XM_024450641.1:c.3361C>G XP_024306409.1:p.Leu1121Val
XM_024450642.1:c.3316C>G XP_024306410.1:p.Leu1106Val
XM_024450643.1:c.3271C>G XP_024306411.1:p.Leu1091Val
NM_001005862.3:c.3133C>G NP_001005862.1:p.Leu1045Val
NM_001289936.2:c.3178C>G NP_001276865.1:p.Leu1060Val
NM_001289937.2:c.3160-331C>G NP_001276866.1:n.3160-331C>G
NM_001382782.1:c.3133C>G NP_001369711.1:p.Leu1045Val
NM_001382783.1:c.3133C>G NP_001369712.1:p.Leu1045Val
NM_001382784.1:c.3340C>G NP_001369713.1:p.Leu1114Val
NM_001382785.1:c.3325C>G NP_001369714.1:p.Leu1109Val
NM_001382786.1:c.3304C>G NP_001369715.1:p.Leu1102Val
NM_001382787.1:c.3298C>G NP_001369716.1:p.Leu1100Val
NM_001382788.1:c.3253C>G NP_001369717.1:p.Leu1085Val
NM_001382789.1:c.3244C>G NP_001369718.1:p.Leu1082Val
NM_001382790.1:c.3220C>G NP_001369719.1:p.Leu1074Val
NM_001382791.1:c.3214C>G NP_001369720.1:p.Leu1072Val
NM_001382792.1:c.3187C>G NP_001369721.1:p.Leu1063Val
NM_001382793.1:c.3181C>G NP_001369722.1:p.Leu1061Val
NM_001382794.1:c.3181C>G NP_001369723.1:p.Leu1061Val
NM_001382795.1:c.3175C>G NP_001369724.1:p.Leu1059Val
NM_001382796.1:c.3136C>G NP_001369725.1:p.Leu1046Val
NM_001382797.1:c.3124C>G NP_001369726.1:p.Leu1042Val
NM_001382798.1:c.3067C>G NP_001369727.1:p.Leu1023Val
NM_001382799.1:c.3043C>G NP_001369728.1:p.Leu1015Val
NM_001382800.1:c.3037C>G NP_001369729.1:p.Leu1013Val
NM_001382801.1:c.3019C>G NP_001369730.1:p.Leu1007Val
NM_001382802.1:c.2965C>G NP_001369731.1:p.Leu989Val
NM_001382803.1:c.3118-331C>G NP_001369732.1:n.3118-331C>G
NM_001382804.1:c.2395C>G NP_001369733.1:p.Leu799Val
NM_001382805.1:c.2272C>G NP_001369734.1:p.Leu758Val
NM_001382806.1:c.2185C>G NP_001369735.1:p.Leu729Val
NM_004448.4:c.3223C>G MANE Select NP_004439.2:p.Leu1075Val
NR_110535.2:n.3461C>G