Canonical Allele Identifier: CA399302890

Gene: ERBB2

Linked Data

• dbSNP Id: rs2145848439
• gnomAD v4: 17-39724759-T-A
• MyVariant Identifiers: chr17:g.37881012T>A (hg19) ; chr17:g.39724759T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39724759T>A , CM000679.2:g.39724759T>A	GRCh38
NC_000017.10:g.37881012T>A , CM000679.1:g.37881012T>A	GRCh37
NC_000017.9:g.35134538T>A	NCBI36
NG_007503.1:g.41620T>A , LRG_724:g.41620T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.2341T>A MANE Select	ENSP00000269571.4:p.Tyr781Asn
ENST00000269571.9:c.2341T>A	ENSP00000269571.4:p.Tyr781Asn
ENST00000406381.6:c.2251T>A	ENSP00000385185.2:p.Tyr751Asn
ENST00000445658.6:c.1513T>A	ENSP00000404047.2:p.Tyr505Asn
ENST00000541774.5:c.2296T>A	ENSP00000446466.1:p.Tyr766Asn
ENST00000578373.5:c.*2131T>A	ENSP00000463427.1:n.*2131T>A
ENST00000580074.1:c.447T>A
ENST00000583038.5:n.3475T>A
ENST00000584450.5:c.2341T>A	ENSP00000463714.1:p.Tyr781Asn
ENST00000584601.5:c.2251T>A	ENSP00000462438.1:p.Tyr751Asn
NM_001005862.2:c.2251T>A , LRG_724t1:c.2251T>A	NP_001005862.1:p.Tyr751Asn
NM_001289936.1:c.2296T>A , LRG_724t4:c.2296T>A	NP_001276865.1:p.Tyr766Asn
NM_001289937.1:c.2341T>A	NP_001276866.1:p.Tyr781Asn
NM_004448.3:c.2341T>A , LRG_724t2:c.2341T>A	NP_004439.2:p.Tyr781Asn
NR_110535.1:n.2665T>A
XM_024450641.1:c.2479T>A	XP_024306409.1:p.Tyr827Asn
XM_024450642.1:c.2434T>A	XP_024306410.1:p.Tyr812Asn
XM_024450643.1:c.2389T>A	XP_024306411.1:p.Tyr797Asn
NM_001005862.3:c.2251T>A	NP_001005862.1:p.Tyr751Asn
NM_001289936.2:c.2296T>A	NP_001276865.1:p.Tyr766Asn
NM_001289937.2:c.2341T>A	NP_001276866.1:p.Tyr781Asn
NM_001382782.1:c.2251T>A	NP_001369711.1:p.Tyr751Asn
NM_001382783.1:c.2251T>A	NP_001369712.1:p.Tyr751Asn
NM_001382784.1:c.2458T>A	NP_001369713.1:p.Tyr820Asn
NM_001382785.1:c.2443T>A	NP_001369714.1:p.Tyr815Asn
NM_001382786.1:c.2422T>A	NP_001369715.1:p.Tyr808Asn
NM_001382787.1:c.2416T>A	NP_001369716.1:p.Tyr806Asn
NM_001382788.1:c.2371T>A	NP_001369717.1:p.Tyr791Asn
NM_001382789.1:c.2362T>A	NP_001369718.1:p.Tyr788Asn
NM_001382790.1:c.2338T>A	NP_001369719.1:p.Tyr780Asn
NM_001382791.1:c.2332T>A	NP_001369720.1:p.Tyr778Asn
NM_001382792.1:c.2305T>A	NP_001369721.1:p.Tyr769Asn
NM_001382793.1:c.2299T>A	NP_001369722.1:p.Tyr767Asn
NM_001382794.1:c.2299T>A	NP_001369723.1:p.Tyr767Asn
NM_001382795.1:c.2293T>A	NP_001369724.1:p.Tyr765Asn
NM_001382796.1:c.2341T>A	NP_001369725.1:p.Tyr781Asn
NM_001382797.1:c.2242T>A	NP_001369726.1:p.Tyr748Asn
NM_001382798.1:c.2341T>A	NP_001369727.1:p.Tyr781Asn
NM_001382799.1:c.2161T>A	NP_001369728.1:p.Tyr721Asn
NM_001382800.1:c.2308-290T>A	NP_001369729.1:n.2308-290T>A
NM_001382801.1:c.2293T>A	NP_001369730.1:p.Tyr765Asn
NM_001382802.1:c.2083T>A	NP_001369731.1:p.Tyr695Asn
NM_001382803.1:c.2299T>A	NP_001369732.1:p.Tyr767Asn
NM_001382804.1:c.1513T>A	NP_001369733.1:p.Tyr505Asn
NM_001382805.1:c.2208+1099T>A	NP_001369734.1:n.2208+1099T>A
NM_001382806.1:c.1303T>A	NP_001369735.1:p.Tyr435Asn
NM_004448.4:c.2341T>A MANE Select	NP_004439.2:p.Tyr781Asn
NR_110535.2:n.2579T>A