Canonical Allele Identifier: CA123559

Gene: ERBB2

Linked Data

• ClinVar Variation Id: 13873
• ClinVar RCV Id: RCV000014887 ; RCV000120744
• dbSNP Id: rs1136201
• ExAC: 17:37879588 A / G
• gnomAD v2: 17-37879588-A-G
• gnomAD v3: 17-39723335-A-G
• gnomAD v4: 17-39723335-A-G
• MyVariant Identifiers: chr17:g.37879588A>G (hg19) ; chr17:g.39723335A>G (hg38)
• PubMed: PMID:1681519 ; PMID:2999974 ; PMID:3003577 ; PMID:8095488 ; PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39723335A>G , CM000679.2:g.39723335A>G	GRCh38
NC_000017.10:g.37879588A>G , CM000679.1:g.37879588A>G	GRCh37
NC_000017.9:g.35133114A>G	NCBI36
NG_007503.1:g.40196A>G , LRG_724:g.40196A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000269571.10:c.1963A>G MANE Select	ENSP00000269571.4:p.Ile655Val
ENST00000269571.9:c.1963A>G	ENSP00000269571.4:p.Ile655Val
ENST00000406381.6:c.1873A>G	ENSP00000385185.2:p.Ile625Val
ENST00000445658.6:c.1135A>G	ENSP00000404047.2:p.Ile379Val
ENST00000541774.5:c.1918A>G	ENSP00000446466.1:p.Ile640Val
ENST00000578373.5:c.*1753A>G	ENSP00000463427.1:n.*1753A>G
ENST00000578630.1:n.572A>G
ENST00000580074.1:c.69A>G
ENST00000582818.5:c.281A>G
ENST00000583038.5:n.3097A>G
ENST00000584450.5:c.1963A>G	ENSP00000463714.1:p.Ile655Val
ENST00000584601.5:c.1873A>G	ENSP00000462438.1:p.Ile625Val
NM_001005862.2:c.1873A>G , LRG_724t1:c.1873A>G	NP_001005862.1:p.Ile625Val
NM_001289936.1:c.1918A>G , LRG_724t4:c.1918A>G	NP_001276865.1:p.Ile640Val
NM_001289937.1:c.1963A>G	NP_001276866.1:p.Ile655Val
NM_004448.3:c.1963A>G , LRG_724t2:c.1963A>G	NP_004439.2:p.Ile655Val
NR_110535.1:n.2287A>G
XM_024450641.1:c.2101A>G	XP_024306409.1:p.Ile701Val
XM_024450642.1:c.2056A>G	XP_024306410.1:p.Ile686Val
XM_024450643.1:c.2011A>G	XP_024306411.1:p.Ile671Val
NM_001005862.3:c.1873A>G	NP_001005862.1:p.Ile625Val
NM_001289936.2:c.1918A>G	NP_001276865.1:p.Ile640Val
NM_001289937.2:c.1963A>G	NP_001276866.1:p.Ile655Val
NM_001382782.1:c.1873A>G	NP_001369711.1:p.Ile625Val
NM_001382783.1:c.1873A>G	NP_001369712.1:p.Ile625Val
NM_001382784.1:c.2080A>G	NP_001369713.1:p.Ile694Val
NM_001382785.1:c.2065A>G	NP_001369714.1:p.Ile689Val
NM_001382786.1:c.2080A>G	NP_001369715.1:p.Ile694Val
NM_001382787.1:c.2038A>G	NP_001369716.1:p.Ile680Val
NM_001382788.1:c.1993A>G	NP_001369717.1:p.Ile665Val
NM_001382789.1:c.1984A>G	NP_001369718.1:p.Ile662Val
NM_001382790.1:c.1960A>G	NP_001369719.1:p.Ile654Val
NM_001382791.1:c.1954A>G	NP_001369720.1:p.Ile652Val
NM_001382792.1:c.1963A>G	NP_001369721.1:p.Ile655Val
NM_001382793.1:c.1963A>G	NP_001369722.1:p.Ile655Val
NM_001382794.1:c.1963A>G	NP_001369723.1:p.Ile655Val
NM_001382795.1:c.1915A>G	NP_001369724.1:p.Ile639Val
NM_001382796.1:c.1963A>G	NP_001369725.1:p.Ile655Val
NM_001382797.1:c.1963A>G	NP_001369726.1:p.Ile655Val
NM_001382798.1:c.1963A>G	NP_001369727.1:p.Ile655Val
NM_001382799.1:c.1783A>G	NP_001369728.1:p.Ile595Val
NM_001382800.1:c.1963A>G	NP_001369729.1:p.Ile655Val
NM_001382801.1:c.1915A>G	NP_001369730.1:p.Ile639Val
NM_001382802.1:c.1705A>G	NP_001369731.1:p.Ile569Val
NM_001382803.1:c.1963A>G	NP_001369732.1:p.Ile655Val
NM_001382804.1:c.1135A>G	NP_001369733.1:p.Ile379Val
NM_001382805.1:c.1963A>G	NP_001369734.1:p.Ile655Val
NM_001382806.1:c.1223-629A>G	NP_001369735.1:n.1223-629A>G
NM_004448.4:c.1963A>G MANE Select	NP_004439.2:p.Ile655Val
NR_110535.2:n.2201A>G