Canonical Allele Identifier: CA8534328

Gene: ERBB2

Linked Data

• dbSNP Id: rs375043510
• ExAC: 17:37881359 G / A
• gnomAD v2: 17-37881359-G-A
• gnomAD v4: 17-39725106-G-A
• MyVariant Identifiers: chr17:g.37881359G>A (hg19) ; chr17:g.39725106G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39725106G>A , CM000679.2:g.39725106G>A	GRCh38
NC_000017.10:g.37881359G>A , CM000679.1:g.37881359G>A	GRCh37
NC_000017.9:g.35134885G>A	NCBI36
NG_007503.1:g.41967G>A , LRG_724:g.41967G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.2551G>A MANE Select	ENSP00000269571.4:p.Val851Met
ENST00000269571.9:c.2551G>A	ENSP00000269571.4:p.Val851Met
ENST00000406381.6:c.2461G>A	ENSP00000385185.2:p.Val821Met
ENST00000445658.6:c.1723G>A	ENSP00000404047.2:p.Val575Met
ENST00000541774.5:c.2506G>A	ENSP00000446466.1:p.Val836Met
ENST00000578373.5:c.*2341G>A	ENSP00000463427.1:n.*2341G>A
ENST00000580074.1:c.657G>A
ENST00000583038.5:n.3685G>A
ENST00000584450.5:c.2551G>A	ENSP00000463714.1:p.Val851Met
ENST00000584601.5:c.2461G>A	ENSP00000462438.1:p.Val821Met
NM_001005862.2:c.2461G>A , LRG_724t1:c.2461G>A	NP_001005862.1:p.Val821Met
NM_001289936.1:c.2506G>A , LRG_724t4:c.2506G>A	NP_001276865.1:p.Val836Met
NM_001289937.1:c.2551G>A	NP_001276866.1:p.Val851Met
NM_004448.3:c.2551G>A , LRG_724t2:c.2551G>A	NP_004439.2:p.Val851Met
NR_110535.1:n.2875G>A
XM_024450641.1:c.2689G>A	XP_024306409.1:p.Val897Met
XM_024450642.1:c.2644G>A	XP_024306410.1:p.Val882Met
XM_024450643.1:c.2599G>A	XP_024306411.1:p.Val867Met
NM_001005862.3:c.2461G>A	NP_001005862.1:p.Val821Met
NM_001289936.2:c.2506G>A	NP_001276865.1:p.Val836Met
NM_001289937.2:c.2551G>A	NP_001276866.1:p.Val851Met
NM_001382782.1:c.2461G>A	NP_001369711.1:p.Val821Met
NM_001382783.1:c.2461G>A	NP_001369712.1:p.Val821Met
NM_001382784.1:c.2668G>A	NP_001369713.1:p.Val890Met
NM_001382785.1:c.2653G>A	NP_001369714.1:p.Val885Met
NM_001382786.1:c.2632G>A	NP_001369715.1:p.Val878Met
NM_001382787.1:c.2626G>A	NP_001369716.1:p.Val876Met
NM_001382788.1:c.2581G>A	NP_001369717.1:p.Val861Met
NM_001382789.1:c.2572G>A	NP_001369718.1:p.Val858Met
NM_001382790.1:c.2548G>A	NP_001369719.1:p.Val850Met
NM_001382791.1:c.2542G>A	NP_001369720.1:p.Val848Met
NM_001382792.1:c.2515G>A	NP_001369721.1:p.Val839Met
NM_001382793.1:c.2509G>A	NP_001369722.1:p.Val837Met
NM_001382794.1:c.2509G>A	NP_001369723.1:p.Val837Met
NM_001382795.1:c.2503G>A	NP_001369724.1:p.Val835Met
NM_001382796.1:c.2551G>A	NP_001369725.1:p.Val851Met
NM_001382797.1:c.2452G>A	NP_001369726.1:p.Val818Met
NM_001382798.1:c.2493+195G>A	NP_001369727.1:n.2493+195G>A
NM_001382799.1:c.2371G>A	NP_001369728.1:p.Val791Met
NM_001382800.1:c.2365G>A	NP_001369729.1:p.Val789Met
NM_001382801.1:c.2445+195G>A	NP_001369730.1:n.2445+195G>A
NM_001382802.1:c.2293G>A	NP_001369731.1:p.Val765Met
NM_001382803.1:c.2509G>A	NP_001369732.1:p.Val837Met
NM_001382804.1:c.1723G>A	NP_001369733.1:p.Val575Met
NM_001382805.1:c.2208+1446G>A	NP_001369734.1:n.2208+1446G>A
NM_001382806.1:c.1513G>A	NP_001369735.1:p.Val505Met
NM_004448.4:c.2551G>A MANE Select	NP_004439.2:p.Val851Met
NR_110535.2:n.2789G>A