Canonical Allele Identifier: CA399314248

Gene: ERBB2

Linked Data

• dbSNP Id: rs747245215
• MyVariant Identifiers: chr17:g.37884178T>A (hg19) ; chr17:g.39727925T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727925T>A , CM000679.2:g.39727925T>A	GRCh38
NC_000017.10:g.37884178T>A , CM000679.1:g.37884178T>A	GRCh37
NC_000017.9:g.35137704T>A	NCBI36
NG_007503.1:g.44786T>A , LRG_724:g.44786T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3649T>A MANE Select	ENSP00000269571.4:p.Phe1217Ile
ENST00000269571.9:c.3649T>A	ENSP00000269571.4:p.Phe1217Ile
ENST00000406381.6:c.3559T>A	ENSP00000385185.2:p.Phe1187Ile
ENST00000445658.6:c.2821T>A	ENSP00000404047.2:p.Phe941Ile
ENST00000541774.5:c.3604T>A	ENSP00000446466.1:p.Phe1202Ile
ENST00000578373.5:c.*3439T>A	ENSP00000463427.1:n.*3439T>A
ENST00000584450.5:c.*228T>A	ENSP00000463714.1:n.*228T>A
ENST00000584601.5:c.3559T>A	ENSP00000462438.1:p.Phe1187Ile
NM_001005862.2:c.3559T>A , LRG_724t1:c.3559T>A	NP_001005862.1:p.Phe1187Ile
NM_001289936.1:c.3604T>A , LRG_724t4:c.3604T>A	NP_001276865.1:p.Phe1202Ile
NM_001289937.1:c.*228T>A	NP_001276866.1:n.*228T>A
NM_004448.3:c.3649T>A , LRG_724t2:c.3649T>A	NP_004439.2:p.Phe1217Ile
NR_110535.1:n.3973T>A
XM_024450641.1:c.3787T>A	XP_024306409.1:p.Phe1263Ile
XM_024450642.1:c.3742T>A	XP_024306410.1:p.Phe1248Ile
XM_024450643.1:c.3697T>A	XP_024306411.1:p.Phe1233Ile
NM_001005862.3:c.3559T>A	NP_001005862.1:p.Phe1187Ile
NM_001289936.2:c.3604T>A	NP_001276865.1:p.Phe1202Ile
NM_001289937.2:c.*228T>A	NP_001276866.1:n.*228T>A
NM_001382782.1:c.3559T>A	NP_001369711.1:p.Phe1187Ile
NM_001382783.1:c.3559T>A	NP_001369712.1:p.Phe1187Ile
NM_001382784.1:c.3766T>A	NP_001369713.1:p.Phe1256Ile
NM_001382785.1:c.3751T>A	NP_001369714.1:p.Phe1251Ile
NM_001382786.1:c.3730T>A	NP_001369715.1:p.Phe1244Ile
NM_001382787.1:c.3724T>A	NP_001369716.1:p.Phe1242Ile
NM_001382788.1:c.3679T>A	NP_001369717.1:p.Phe1227Ile
NM_001382789.1:c.3670T>A	NP_001369718.1:p.Phe1224Ile
NM_001382790.1:c.3646T>A	NP_001369719.1:p.Phe1216Ile
NM_001382791.1:c.3640T>A	NP_001369720.1:p.Phe1214Ile
NM_001382792.1:c.3613T>A	NP_001369721.1:p.Phe1205Ile
NM_001382793.1:c.3607T>A	NP_001369722.1:p.Phe1203Ile
NM_001382794.1:c.3607T>A	NP_001369723.1:p.Phe1203Ile
NM_001382795.1:c.3601T>A	NP_001369724.1:p.Phe1201Ile
NM_001382796.1:c.3562T>A	NP_001369725.1:p.Phe1188Ile
NM_001382797.1:c.3550T>A	NP_001369726.1:p.Phe1184Ile
NM_001382798.1:c.3493T>A	NP_001369727.1:p.Phe1165Ile
NM_001382799.1:c.3469T>A	NP_001369728.1:p.Phe1157Ile
NM_001382800.1:c.3463T>A	NP_001369729.1:p.Phe1155Ile
NM_001382801.1:c.3445T>A	NP_001369730.1:p.Phe1149Ile
NM_001382802.1:c.3391T>A	NP_001369731.1:p.Phe1131Ile
NM_001382803.1:c.*228T>A	NP_001369732.1:n.*228T>A
NM_001382804.1:c.2821T>A	NP_001369733.1:p.Phe941Ile
NM_001382805.1:c.2698T>A	NP_001369734.1:p.Phe900Ile
NM_001382806.1:c.2611T>A	NP_001369735.1:p.Phe871Ile
NM_004448.4:c.3649T>A MANE Select	NP_004439.2:p.Phe1217Ile
NR_110535.2:n.3887T>A