Canonical Allele Identifier: CA399313863
Gene: ERBB2 HGNC NCBI

Linked Data

dbSNP Id: rs2143306375

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39727874C>A , CM000679.2:g.39727874C>A GRCh38
NC_000017.10:g.37884127C>A , CM000679.1:g.37884127C>A GRCh37
NC_000017.9:g.35137653C>A NCBI36
NG_007503.1:g.44735C>A , LRG_724:g.44735C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000269571.10:c.3598C>A MANE Select ENSP00000269571.4:p.Gln1200Lys
ENST00000269571.9:c.3598C>A ENSP00000269571.4:p.Gln1200Lys
ENST00000406381.6:c.3508C>A ENSP00000385185.2:p.Gln1170Lys
ENST00000445658.6:c.2770C>A ENSP00000404047.2:p.Gln924Lys
ENST00000541774.5:c.3553C>A ENSP00000446466.1:p.Gln1185Lys
ENST00000578373.5:c.*3388C>A ENSP00000463427.1:n.*3388C>A
ENST00000584450.5:c.*177C>A ENSP00000463714.1:n.*177C>A
ENST00000584601.5:c.3508C>A ENSP00000462438.1:p.Gln1170Lys
NM_001005862.2:c.3508C>A , LRG_724t1:c.3508C>A NP_001005862.1:p.Gln1170Lys
NM_001289936.1:c.3553C>A , LRG_724t4:c.3553C>A NP_001276865.1:p.Gln1185Lys
NM_001289937.1:c.*177C>A NP_001276866.1:n.*177C>A
NM_004448.3:c.3598C>A , LRG_724t2:c.3598C>A NP_004439.2:p.Gln1200Lys
NR_110535.1:n.3922C>A
XM_024450641.1:c.3736C>A XP_024306409.1:p.Gln1246Lys
XM_024450642.1:c.3691C>A XP_024306410.1:p.Gln1231Lys
XM_024450643.1:c.3646C>A XP_024306411.1:p.Gln1216Lys
NM_001005862.3:c.3508C>A NP_001005862.1:p.Gln1170Lys
NM_001289936.2:c.3553C>A NP_001276865.1:p.Gln1185Lys
NM_001289937.2:c.*177C>A NP_001276866.1:n.*177C>A
NM_001382782.1:c.3508C>A NP_001369711.1:p.Gln1170Lys
NM_001382783.1:c.3508C>A NP_001369712.1:p.Gln1170Lys
NM_001382784.1:c.3715C>A NP_001369713.1:p.Gln1239Lys
NM_001382785.1:c.3700C>A NP_001369714.1:p.Gln1234Lys
NM_001382786.1:c.3679C>A NP_001369715.1:p.Gln1227Lys
NM_001382787.1:c.3673C>A NP_001369716.1:p.Gln1225Lys
NM_001382788.1:c.3628C>A NP_001369717.1:p.Gln1210Lys
NM_001382789.1:c.3619C>A NP_001369718.1:p.Gln1207Lys
NM_001382790.1:c.3595C>A NP_001369719.1:p.Gln1199Lys
NM_001382791.1:c.3589C>A NP_001369720.1:p.Gln1197Lys
NM_001382792.1:c.3562C>A NP_001369721.1:p.Gln1188Lys
NM_001382793.1:c.3556C>A NP_001369722.1:p.Gln1186Lys
NM_001382794.1:c.3556C>A NP_001369723.1:p.Gln1186Lys
NM_001382795.1:c.3550C>A NP_001369724.1:p.Gln1184Lys
NM_001382796.1:c.3511C>A NP_001369725.1:p.Gln1171Lys
NM_001382797.1:c.3499C>A NP_001369726.1:p.Gln1167Lys
NM_001382798.1:c.3442C>A NP_001369727.1:p.Gln1148Lys
NM_001382799.1:c.3418C>A NP_001369728.1:p.Gln1140Lys
NM_001382800.1:c.3412C>A NP_001369729.1:p.Gln1138Lys
NM_001382801.1:c.3394C>A NP_001369730.1:p.Gln1132Lys
NM_001382802.1:c.3340C>A NP_001369731.1:p.Gln1114Lys
NM_001382803.1:c.*177C>A NP_001369732.1:n.*177C>A
NM_001382804.1:c.2770C>A NP_001369733.1:p.Gln924Lys
NM_001382805.1:c.2647C>A NP_001369734.1:p.Gln883Lys
NM_001382806.1:c.2560C>A NP_001369735.1:p.Gln854Lys
NM_004448.4:c.3598C>A MANE Select NP_004439.2:p.Gln1200Lys
NR_110535.2:n.3836C>A