Canonical Allele Identifier: CA399304094

Gene: ERBB2

Linked Data

• dbSNP Id: rs2145862388
• gnomAD v4: 17-39725059-A-G
• MyVariant Identifiers: chr17:g.37881312A>G (hg19) ; chr17:g.39725059A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39725059A>G , CM000679.2:g.39725059A>G	GRCh38
NC_000017.10:g.37881312A>G , CM000679.1:g.37881312A>G	GRCh37
NC_000017.9:g.35134838A>G	NCBI36
NG_007503.1:g.41920A>G , LRG_724:g.41920A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.2504A>G MANE Select	ENSP00000269571.4:p.Tyr835Cys
ENST00000269571.9:c.2504A>G	ENSP00000269571.4:p.Tyr835Cys
ENST00000406381.6:c.2414A>G	ENSP00000385185.2:p.Tyr805Cys
ENST00000445658.6:c.1676A>G	ENSP00000404047.2:p.Tyr559Cys
ENST00000541774.5:c.2459A>G	ENSP00000446466.1:p.Tyr820Cys
ENST00000578373.5:c.*2294A>G	ENSP00000463427.1:n.*2294A>G
ENST00000580074.1:c.610A>G
ENST00000583038.5:n.3638A>G
ENST00000584450.5:c.2504A>G	ENSP00000463714.1:p.Tyr835Cys
ENST00000584601.5:c.2414A>G	ENSP00000462438.1:p.Tyr805Cys
NM_001005862.2:c.2414A>G , LRG_724t1:c.2414A>G	NP_001005862.1:p.Tyr805Cys
NM_001289936.1:c.2459A>G , LRG_724t4:c.2459A>G	NP_001276865.1:p.Tyr820Cys
NM_001289937.1:c.2504A>G	NP_001276866.1:p.Tyr835Cys
NM_004448.3:c.2504A>G , LRG_724t2:c.2504A>G	NP_004439.2:p.Tyr835Cys
NR_110535.1:n.2828A>G
XM_024450641.1:c.2642A>G	XP_024306409.1:p.Tyr881Cys
XM_024450642.1:c.2597A>G	XP_024306410.1:p.Tyr866Cys
XM_024450643.1:c.2552A>G	XP_024306411.1:p.Tyr851Cys
NM_001005862.3:c.2414A>G	NP_001005862.1:p.Tyr805Cys
NM_001289936.2:c.2459A>G	NP_001276865.1:p.Tyr820Cys
NM_001289937.2:c.2504A>G	NP_001276866.1:p.Tyr835Cys
NM_001382782.1:c.2414A>G	NP_001369711.1:p.Tyr805Cys
NM_001382783.1:c.2414A>G	NP_001369712.1:p.Tyr805Cys
NM_001382784.1:c.2621A>G	NP_001369713.1:p.Tyr874Cys
NM_001382785.1:c.2606A>G	NP_001369714.1:p.Tyr869Cys
NM_001382786.1:c.2585A>G	NP_001369715.1:p.Tyr862Cys
NM_001382787.1:c.2579A>G	NP_001369716.1:p.Tyr860Cys
NM_001382788.1:c.2534A>G	NP_001369717.1:p.Tyr845Cys
NM_001382789.1:c.2525A>G	NP_001369718.1:p.Tyr842Cys
NM_001382790.1:c.2501A>G	NP_001369719.1:p.Tyr834Cys
NM_001382791.1:c.2495A>G	NP_001369720.1:p.Tyr832Cys
NM_001382792.1:c.2468A>G	NP_001369721.1:p.Tyr823Cys
NM_001382793.1:c.2462A>G	NP_001369722.1:p.Tyr821Cys
NM_001382794.1:c.2462A>G	NP_001369723.1:p.Tyr821Cys
NM_001382795.1:c.2456A>G	NP_001369724.1:p.Tyr819Cys
NM_001382796.1:c.2504A>G	NP_001369725.1:p.Tyr835Cys
NM_001382797.1:c.2405A>G	NP_001369726.1:p.Tyr802Cys
NM_001382798.1:c.2493+148A>G	NP_001369727.1:n.2493+148A>G
NM_001382799.1:c.2324A>G	NP_001369728.1:p.Tyr775Cys
NM_001382800.1:c.2318A>G	NP_001369729.1:p.Tyr773Cys
NM_001382801.1:c.2445+148A>G	NP_001369730.1:n.2445+148A>G
NM_001382802.1:c.2246A>G	NP_001369731.1:p.Tyr749Cys
NM_001382803.1:c.2462A>G	NP_001369732.1:p.Tyr821Cys
NM_001382804.1:c.1676A>G	NP_001369733.1:p.Tyr559Cys
NM_001382805.1:c.2208+1399A>G	NP_001369734.1:n.2208+1399A>G
NM_001382806.1:c.1466A>G	NP_001369735.1:p.Tyr489Cys
NM_004448.4:c.2504A>G MANE Select	NP_004439.2:p.Tyr835Cys
NR_110535.2:n.2742A>G