Canonical Allele Identifier: CA290440546

Gene: ERBB2

Linked Data

• dbSNP Id: rs968832437
• gnomAD v4: 17-39724768-C-T
• COSMIC: COSM24613
• MyVariant Identifiers: chr17:g.37881021C>T (hg19) ; chr17:g.39724768C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39724768C>T , CM000679.2:g.39724768C>T	GRCh38
NC_000017.10:g.37881021C>T , CM000679.1:g.37881021C>T	GRCh37
NC_000017.9:g.35134547C>T	NCBI36
NG_007503.1:g.41629C>T , LRG_724:g.41629C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.2350C>T MANE Select	ENSP00000269571.4:p.Arg784Cys
ENST00000269571.9:c.2350C>T	ENSP00000269571.4:p.Arg784Cys
ENST00000406381.6:c.2260C>T	ENSP00000385185.2:p.Arg754Cys
ENST00000445658.6:c.1522C>T	ENSP00000404047.2:p.Arg508Cys
ENST00000541774.5:c.2305C>T	ENSP00000446466.1:p.Arg769Cys
ENST00000578373.5:c.*2140C>T	ENSP00000463427.1:n.*2140C>T
ENST00000580074.1:c.456C>T
ENST00000583038.5:n.3484C>T
ENST00000584450.5:c.2350C>T	ENSP00000463714.1:p.Arg784Cys
ENST00000584601.5:c.2260C>T	ENSP00000462438.1:p.Arg754Cys
NM_001005862.2:c.2260C>T , LRG_724t1:c.2260C>T	NP_001005862.1:p.Arg754Cys
NM_001289936.1:c.2305C>T , LRG_724t4:c.2305C>T	NP_001276865.1:p.Arg769Cys
NM_001289937.1:c.2350C>T	NP_001276866.1:p.Arg784Cys
NM_004448.3:c.2350C>T , LRG_724t2:c.2350C>T	NP_004439.2:p.Arg784Cys
NR_110535.1:n.2674C>T
XM_024450641.1:c.2488C>T	XP_024306409.1:p.Arg830Cys
XM_024450642.1:c.2443C>T	XP_024306410.1:p.Arg815Cys
XM_024450643.1:c.2398C>T	XP_024306411.1:p.Arg800Cys
NM_001005862.3:c.2260C>T	NP_001005862.1:p.Arg754Cys
NM_001289936.2:c.2305C>T	NP_001276865.1:p.Arg769Cys
NM_001289937.2:c.2350C>T	NP_001276866.1:p.Arg784Cys
NM_001382782.1:c.2260C>T	NP_001369711.1:p.Arg754Cys
NM_001382783.1:c.2260C>T	NP_001369712.1:p.Arg754Cys
NM_001382784.1:c.2467C>T	NP_001369713.1:p.Arg823Cys
NM_001382785.1:c.2452C>T	NP_001369714.1:p.Arg818Cys
NM_001382786.1:c.2431C>T	NP_001369715.1:p.Arg811Cys
NM_001382787.1:c.2425C>T	NP_001369716.1:p.Arg809Cys
NM_001382788.1:c.2380C>T	NP_001369717.1:p.Arg794Cys
NM_001382789.1:c.2371C>T	NP_001369718.1:p.Arg791Cys
NM_001382790.1:c.2347C>T	NP_001369719.1:p.Arg783Cys
NM_001382791.1:c.2341C>T	NP_001369720.1:p.Arg781Cys
NM_001382792.1:c.2314C>T	NP_001369721.1:p.Arg772Cys
NM_001382793.1:c.2308C>T	NP_001369722.1:p.Arg770Cys
NM_001382794.1:c.2308C>T	NP_001369723.1:p.Arg770Cys
NM_001382795.1:c.2302C>T	NP_001369724.1:p.Arg768Cys
NM_001382796.1:c.2350C>T	NP_001369725.1:p.Arg784Cys
NM_001382797.1:c.2251C>T	NP_001369726.1:p.Arg751Cys
NM_001382798.1:c.2350C>T	NP_001369727.1:p.Arg784Cys
NM_001382799.1:c.2170C>T	NP_001369728.1:p.Arg724Cys
NM_001382800.1:c.2308-281C>T	NP_001369729.1:n.2308-281C>T
NM_001382801.1:c.2302C>T	NP_001369730.1:p.Arg768Cys
NM_001382802.1:c.2092C>T	NP_001369731.1:p.Arg698Cys
NM_001382803.1:c.2308C>T	NP_001369732.1:p.Arg770Cys
NM_001382804.1:c.1522C>T	NP_001369733.1:p.Arg508Cys
NM_001382805.1:c.2208+1108C>T	NP_001369734.1:n.2208+1108C>T
NM_001382806.1:c.1312C>T	NP_001369735.1:p.Arg438Cys
NM_004448.4:c.2350C>T MANE Select	NP_004439.2:p.Arg784Cys
NR_110535.2:n.2588C>T