Canonical Allele Identifier: CA399304178

Gene: ERBB2

Linked Data

• dbSNP Id: rs2145862722
• gnomAD v4: 17-39725067-G-A
• MyVariant Identifiers: chr17:g.37881320G>A (hg19) ; chr17:g.39725067G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39725067G>A , CM000679.2:g.39725067G>A	GRCh38
NC_000017.10:g.37881320G>A , CM000679.1:g.37881320G>A	GRCh37
NC_000017.9:g.35134846G>A	NCBI36
NG_007503.1:g.41928G>A , LRG_724:g.41928G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.2512G>A MANE Select	ENSP00000269571.4:p.Asp838Asn
ENST00000269571.9:c.2512G>A	ENSP00000269571.4:p.Asp838Asn
ENST00000406381.6:c.2422G>A	ENSP00000385185.2:p.Asp808Asn
ENST00000445658.6:c.1684G>A	ENSP00000404047.2:p.Asp562Asn
ENST00000541774.5:c.2467G>A	ENSP00000446466.1:p.Asp823Asn
ENST00000578373.5:c.*2302G>A	ENSP00000463427.1:n.*2302G>A
ENST00000580074.1:c.618G>A
ENST00000583038.5:n.3646G>A
ENST00000584450.5:c.2512G>A	ENSP00000463714.1:p.Asp838Asn
ENST00000584601.5:c.2422G>A	ENSP00000462438.1:p.Asp808Asn
NM_001005862.2:c.2422G>A , LRG_724t1:c.2422G>A	NP_001005862.1:p.Asp808Asn
NM_001289936.1:c.2467G>A , LRG_724t4:c.2467G>A	NP_001276865.1:p.Asp823Asn
NM_001289937.1:c.2512G>A	NP_001276866.1:p.Asp838Asn
NM_004448.3:c.2512G>A , LRG_724t2:c.2512G>A	NP_004439.2:p.Asp838Asn
NR_110535.1:n.2836G>A
XM_024450641.1:c.2650G>A	XP_024306409.1:p.Asp884Asn
XM_024450642.1:c.2605G>A	XP_024306410.1:p.Asp869Asn
XM_024450643.1:c.2560G>A	XP_024306411.1:p.Asp854Asn
NM_001005862.3:c.2422G>A	NP_001005862.1:p.Asp808Asn
NM_001289936.2:c.2467G>A	NP_001276865.1:p.Asp823Asn
NM_001289937.2:c.2512G>A	NP_001276866.1:p.Asp838Asn
NM_001382782.1:c.2422G>A	NP_001369711.1:p.Asp808Asn
NM_001382783.1:c.2422G>A	NP_001369712.1:p.Asp808Asn
NM_001382784.1:c.2629G>A	NP_001369713.1:p.Asp877Asn
NM_001382785.1:c.2614G>A	NP_001369714.1:p.Asp872Asn
NM_001382786.1:c.2593G>A	NP_001369715.1:p.Asp865Asn
NM_001382787.1:c.2587G>A	NP_001369716.1:p.Asp863Asn
NM_001382788.1:c.2542G>A	NP_001369717.1:p.Asp848Asn
NM_001382789.1:c.2533G>A	NP_001369718.1:p.Asp845Asn
NM_001382790.1:c.2509G>A	NP_001369719.1:p.Asp837Asn
NM_001382791.1:c.2503G>A	NP_001369720.1:p.Asp835Asn
NM_001382792.1:c.2476G>A	NP_001369721.1:p.Asp826Asn
NM_001382793.1:c.2470G>A	NP_001369722.1:p.Asp824Asn
NM_001382794.1:c.2470G>A	NP_001369723.1:p.Asp824Asn
NM_001382795.1:c.2464G>A	NP_001369724.1:p.Asp822Asn
NM_001382796.1:c.2512G>A	NP_001369725.1:p.Asp838Asn
NM_001382797.1:c.2413G>A	NP_001369726.1:p.Asp805Asn
NM_001382798.1:c.2493+156G>A	NP_001369727.1:n.2493+156G>A
NM_001382799.1:c.2332G>A	NP_001369728.1:p.Asp778Asn
NM_001382800.1:c.2326G>A	NP_001369729.1:p.Asp776Asn
NM_001382801.1:c.2445+156G>A	NP_001369730.1:n.2445+156G>A
NM_001382802.1:c.2254G>A	NP_001369731.1:p.Asp752Asn
NM_001382803.1:c.2470G>A	NP_001369732.1:p.Asp824Asn
NM_001382804.1:c.1684G>A	NP_001369733.1:p.Asp562Asn
NM_001382805.1:c.2208+1407G>A	NP_001369734.1:n.2208+1407G>A
NM_001382806.1:c.1474G>A	NP_001369735.1:p.Asp492Asn
NM_004448.4:c.2512G>A MANE Select	NP_004439.2:p.Asp838Asn
NR_110535.2:n.2750G>A