Canonical Allele Identifier: CA399304509
Gene: ERBB2 HGNC NCBI

Linked Data

dbSNP Id: rs2145864618

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39725112G>C , CM000679.2:g.39725112G>C GRCh38
NC_000017.10:g.37881365G>C , CM000679.1:g.37881365G>C GRCh37
NC_000017.9:g.35134891G>C NCBI36
NG_007503.1:g.41973G>C , LRG_724:g.41973G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000269571.10:c.2557G>C MANE Select ENSP00000269571.4:p.Val853Leu
ENST00000269571.9:c.2557G>C ENSP00000269571.4:p.Val853Leu
ENST00000406381.6:c.2467G>C ENSP00000385185.2:p.Val823Leu
ENST00000445658.6:c.1729G>C ENSP00000404047.2:p.Val577Leu
ENST00000541774.5:c.2512G>C ENSP00000446466.1:p.Val838Leu
ENST00000578373.5:c.*2347G>C ENSP00000463427.1:n.*2347G>C
ENST00000580074.1:c.663G>C
ENST00000583038.5:n.3691G>C
ENST00000584450.5:c.2557G>C ENSP00000463714.1:p.Val853Leu
ENST00000584601.5:c.2467G>C ENSP00000462438.1:p.Val823Leu
NM_001005862.2:c.2467G>C , LRG_724t1:c.2467G>C NP_001005862.1:p.Val823Leu
NM_001289936.1:c.2512G>C , LRG_724t4:c.2512G>C NP_001276865.1:p.Val838Leu
NM_001289937.1:c.2557G>C NP_001276866.1:p.Val853Leu
NM_004448.3:c.2557G>C , LRG_724t2:c.2557G>C NP_004439.2:p.Val853Leu
NR_110535.1:n.2881G>C
XM_024450641.1:c.2695G>C XP_024306409.1:p.Val899Leu
XM_024450642.1:c.2650G>C XP_024306410.1:p.Val884Leu
XM_024450643.1:c.2605G>C XP_024306411.1:p.Val869Leu
NM_001005862.3:c.2467G>C NP_001005862.1:p.Val823Leu
NM_001289936.2:c.2512G>C NP_001276865.1:p.Val838Leu
NM_001289937.2:c.2557G>C NP_001276866.1:p.Val853Leu
NM_001382782.1:c.2467G>C NP_001369711.1:p.Val823Leu
NM_001382783.1:c.2467G>C NP_001369712.1:p.Val823Leu
NM_001382784.1:c.2674G>C NP_001369713.1:p.Val892Leu
NM_001382785.1:c.2659G>C NP_001369714.1:p.Val887Leu
NM_001382786.1:c.2638G>C NP_001369715.1:p.Val880Leu
NM_001382787.1:c.2632G>C NP_001369716.1:p.Val878Leu
NM_001382788.1:c.2587G>C NP_001369717.1:p.Val863Leu
NM_001382789.1:c.2578G>C NP_001369718.1:p.Val860Leu
NM_001382790.1:c.2554G>C NP_001369719.1:p.Val852Leu
NM_001382791.1:c.2548G>C NP_001369720.1:p.Val850Leu
NM_001382792.1:c.2521G>C NP_001369721.1:p.Val841Leu
NM_001382793.1:c.2515G>C NP_001369722.1:p.Val839Leu
NM_001382794.1:c.2515G>C NP_001369723.1:p.Val839Leu
NM_001382795.1:c.2509G>C NP_001369724.1:p.Val837Leu
NM_001382796.1:c.2557G>C NP_001369725.1:p.Val853Leu
NM_001382797.1:c.2458G>C NP_001369726.1:p.Val820Leu
NM_001382798.1:c.2493+201G>C NP_001369727.1:n.2493+201G>C
NM_001382799.1:c.2377G>C NP_001369728.1:p.Val793Leu
NM_001382800.1:c.2371G>C NP_001369729.1:p.Val791Leu
NM_001382801.1:c.2445+201G>C NP_001369730.1:n.2445+201G>C
NM_001382802.1:c.2299G>C NP_001369731.1:p.Val767Leu
NM_001382803.1:c.2515G>C NP_001369732.1:p.Val839Leu
NM_001382804.1:c.1729G>C NP_001369733.1:p.Val577Leu
NM_001382805.1:c.2208+1452G>C NP_001369734.1:n.2208+1452G>C
NM_001382806.1:c.1519G>C NP_001369735.1:p.Val507Leu
NM_004448.4:c.2557G>C MANE Select NP_004439.2:p.Val853Leu
NR_110535.2:n.2795G>C