Canonical Allele Identifier: CA399304145

Gene: ERBB2

Linked Data

• gnomAD v4: 17-39725065-A-C
• MyVariant Identifiers: chr17:g.37881318A>C (hg19) ; chr17:g.39725065A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39725065A>C , CM000679.2:g.39725065A>C	GRCh38
NC_000017.10:g.37881318A>C , CM000679.1:g.37881318A>C	GRCh37
NC_000017.9:g.35134844A>C	NCBI36
NG_007503.1:g.41926A>C , LRG_724:g.41926A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.2510A>C MANE Select	ENSP00000269571.4:p.Glu837Ala
ENST00000269571.9:c.2510A>C	ENSP00000269571.4:p.Glu837Ala
ENST00000406381.6:c.2420A>C	ENSP00000385185.2:p.Glu807Ala
ENST00000445658.6:c.1682A>C	ENSP00000404047.2:p.Glu561Ala
ENST00000541774.5:c.2465A>C	ENSP00000446466.1:p.Glu822Ala
ENST00000578373.5:c.*2300A>C	ENSP00000463427.1:n.*2300A>C
ENST00000580074.1:c.616A>C
ENST00000583038.5:n.3644A>C
ENST00000584450.5:c.2510A>C	ENSP00000463714.1:p.Glu837Ala
ENST00000584601.5:c.2420A>C	ENSP00000462438.1:p.Glu807Ala
NM_001005862.2:c.2420A>C , LRG_724t1:c.2420A>C	NP_001005862.1:p.Glu807Ala
NM_001289936.1:c.2465A>C , LRG_724t4:c.2465A>C	NP_001276865.1:p.Glu822Ala
NM_001289937.1:c.2510A>C	NP_001276866.1:p.Glu837Ala
NM_004448.3:c.2510A>C , LRG_724t2:c.2510A>C	NP_004439.2:p.Glu837Ala
NR_110535.1:n.2834A>C
XM_024450641.1:c.2648A>C	XP_024306409.1:p.Glu883Ala
XM_024450642.1:c.2603A>C	XP_024306410.1:p.Glu868Ala
XM_024450643.1:c.2558A>C	XP_024306411.1:p.Glu853Ala
NM_001005862.3:c.2420A>C	NP_001005862.1:p.Glu807Ala
NM_001289936.2:c.2465A>C	NP_001276865.1:p.Glu822Ala
NM_001289937.2:c.2510A>C	NP_001276866.1:p.Glu837Ala
NM_001382782.1:c.2420A>C	NP_001369711.1:p.Glu807Ala
NM_001382783.1:c.2420A>C	NP_001369712.1:p.Glu807Ala
NM_001382784.1:c.2627A>C	NP_001369713.1:p.Glu876Ala
NM_001382785.1:c.2612A>C	NP_001369714.1:p.Glu871Ala
NM_001382786.1:c.2591A>C	NP_001369715.1:p.Glu864Ala
NM_001382787.1:c.2585A>C	NP_001369716.1:p.Glu862Ala
NM_001382788.1:c.2540A>C	NP_001369717.1:p.Glu847Ala
NM_001382789.1:c.2531A>C	NP_001369718.1:p.Glu844Ala
NM_001382790.1:c.2507A>C	NP_001369719.1:p.Glu836Ala
NM_001382791.1:c.2501A>C	NP_001369720.1:p.Glu834Ala
NM_001382792.1:c.2474A>C	NP_001369721.1:p.Glu825Ala
NM_001382793.1:c.2468A>C	NP_001369722.1:p.Glu823Ala
NM_001382794.1:c.2468A>C	NP_001369723.1:p.Glu823Ala
NM_001382795.1:c.2462A>C	NP_001369724.1:p.Glu821Ala
NM_001382796.1:c.2510A>C	NP_001369725.1:p.Glu837Ala
NM_001382797.1:c.2411A>C	NP_001369726.1:p.Glu804Ala
NM_001382798.1:c.2493+154A>C	NP_001369727.1:n.2493+154A>C
NM_001382799.1:c.2330A>C	NP_001369728.1:p.Glu777Ala
NM_001382800.1:c.2324A>C	NP_001369729.1:p.Glu775Ala
NM_001382801.1:c.2445+154A>C	NP_001369730.1:n.2445+154A>C
NM_001382802.1:c.2252A>C	NP_001369731.1:p.Glu751Ala
NM_001382803.1:c.2468A>C	NP_001369732.1:p.Glu823Ala
NM_001382804.1:c.1682A>C	NP_001369733.1:p.Glu561Ala
NM_001382805.1:c.2208+1405A>C	NP_001369734.1:n.2208+1405A>C
NM_001382806.1:c.1472A>C	NP_001369735.1:p.Glu491Ala
NM_004448.4:c.2510A>C MANE Select	NP_004439.2:p.Glu837Ala
NR_110535.2:n.2748A>C