Canonical Allele Identifier: CA399302918
Gene: ERBB2 HGNC NCBI

Linked Data

dbSNP Id: rs2145848575

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39724763T>C , CM000679.2:g.39724763T>C GRCh38
NC_000017.10:g.37881016T>C , CM000679.1:g.37881016T>C GRCh37
NC_000017.9:g.35134542T>C NCBI36
NG_007503.1:g.41624T>C , LRG_724:g.41624T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000269571.10:c.2345T>C MANE Select ENSP00000269571.4:p.Val782Ala
ENST00000269571.9:c.2345T>C ENSP00000269571.4:p.Val782Ala
ENST00000406381.6:c.2255T>C ENSP00000385185.2:p.Val752Ala
ENST00000445658.6:c.1517T>C ENSP00000404047.2:p.Val506Ala
ENST00000541774.5:c.2300T>C ENSP00000446466.1:p.Val767Ala
ENST00000578373.5:c.*2135T>C ENSP00000463427.1:n.*2135T>C
ENST00000580074.1:c.451T>C
ENST00000583038.5:n.3479T>C
ENST00000584450.5:c.2345T>C ENSP00000463714.1:p.Val782Ala
ENST00000584601.5:c.2255T>C ENSP00000462438.1:p.Val752Ala
NM_001005862.2:c.2255T>C , LRG_724t1:c.2255T>C NP_001005862.1:p.Val752Ala
NM_001289936.1:c.2300T>C , LRG_724t4:c.2300T>C NP_001276865.1:p.Val767Ala
NM_001289937.1:c.2345T>C NP_001276866.1:p.Val782Ala
NM_004448.3:c.2345T>C , LRG_724t2:c.2345T>C NP_004439.2:p.Val782Ala
NR_110535.1:n.2669T>C
XM_024450641.1:c.2483T>C XP_024306409.1:p.Val828Ala
XM_024450642.1:c.2438T>C XP_024306410.1:p.Val813Ala
XM_024450643.1:c.2393T>C XP_024306411.1:p.Val798Ala
NM_001005862.3:c.2255T>C NP_001005862.1:p.Val752Ala
NM_001289936.2:c.2300T>C NP_001276865.1:p.Val767Ala
NM_001289937.2:c.2345T>C NP_001276866.1:p.Val782Ala
NM_001382782.1:c.2255T>C NP_001369711.1:p.Val752Ala
NM_001382783.1:c.2255T>C NP_001369712.1:p.Val752Ala
NM_001382784.1:c.2462T>C NP_001369713.1:p.Val821Ala
NM_001382785.1:c.2447T>C NP_001369714.1:p.Val816Ala
NM_001382786.1:c.2426T>C NP_001369715.1:p.Val809Ala
NM_001382787.1:c.2420T>C NP_001369716.1:p.Val807Ala
NM_001382788.1:c.2375T>C NP_001369717.1:p.Val792Ala
NM_001382789.1:c.2366T>C NP_001369718.1:p.Val789Ala
NM_001382790.1:c.2342T>C NP_001369719.1:p.Val781Ala
NM_001382791.1:c.2336T>C NP_001369720.1:p.Val779Ala
NM_001382792.1:c.2309T>C NP_001369721.1:p.Val770Ala
NM_001382793.1:c.2303T>C NP_001369722.1:p.Val768Ala
NM_001382794.1:c.2303T>C NP_001369723.1:p.Val768Ala
NM_001382795.1:c.2297T>C NP_001369724.1:p.Val766Ala
NM_001382796.1:c.2345T>C NP_001369725.1:p.Val782Ala
NM_001382797.1:c.2246T>C NP_001369726.1:p.Val749Ala
NM_001382798.1:c.2345T>C NP_001369727.1:p.Val782Ala
NM_001382799.1:c.2165T>C NP_001369728.1:p.Val722Ala
NM_001382800.1:c.2308-286T>C NP_001369729.1:n.2308-286T>C
NM_001382801.1:c.2297T>C NP_001369730.1:p.Val766Ala
NM_001382802.1:c.2087T>C NP_001369731.1:p.Val696Ala
NM_001382803.1:c.2303T>C NP_001369732.1:p.Val768Ala
NM_001382804.1:c.1517T>C NP_001369733.1:p.Val506Ala
NM_001382805.1:c.2208+1103T>C NP_001369734.1:n.2208+1103T>C
NM_001382806.1:c.1307T>C NP_001369735.1:p.Val436Ala
NM_004448.4:c.2345T>C MANE Select NP_004439.2:p.Val782Ala
NR_110535.2:n.2583T>C