Canonical Allele Identifier: CA399314266

Gene: ERBB2

Linked Data

• dbSNP Id: rs188050006
• MyVariant Identifiers: chr17:g.37884180C>A (hg19) ; chr17:g.39727927C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727927C>A , CM000679.2:g.39727927C>A	GRCh38
NC_000017.10:g.37884180C>A , CM000679.1:g.37884180C>A	GRCh37
NC_000017.9:g.35137706C>A	NCBI36
NG_007503.1:g.44788C>A , LRG_724:g.44788C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3651C>A MANE Select	ENSP00000269571.4:p.Phe1217Leu
ENST00000269571.9:c.3651C>A	ENSP00000269571.4:p.Phe1217Leu
ENST00000406381.6:c.3561C>A	ENSP00000385185.2:p.Phe1187Leu
ENST00000445658.6:c.2823C>A	ENSP00000404047.2:p.Phe941Leu
ENST00000541774.5:c.3606C>A	ENSP00000446466.1:p.Phe1202Leu
ENST00000578373.5:c.*3441C>A	ENSP00000463427.1:n.*3441C>A
ENST00000584450.5:c.*230C>A	ENSP00000463714.1:n.*230C>A
ENST00000584601.5:c.3561C>A	ENSP00000462438.1:p.Phe1187Leu
NM_001005862.2:c.3561C>A , LRG_724t1:c.3561C>A	NP_001005862.1:p.Phe1187Leu
NM_001289936.1:c.3606C>A , LRG_724t4:c.3606C>A	NP_001276865.1:p.Phe1202Leu
NM_001289937.1:c.*230C>A	NP_001276866.1:n.*230C>A
NM_004448.3:c.3651C>A , LRG_724t2:c.3651C>A	NP_004439.2:p.Phe1217Leu
NR_110535.1:n.3975C>A
XM_024450641.1:c.3789C>A	XP_024306409.1:p.Phe1263Leu
XM_024450642.1:c.3744C>A	XP_024306410.1:p.Phe1248Leu
XM_024450643.1:c.3699C>A	XP_024306411.1:p.Phe1233Leu
NM_001005862.3:c.3561C>A	NP_001005862.1:p.Phe1187Leu
NM_001289936.2:c.3606C>A	NP_001276865.1:p.Phe1202Leu
NM_001289937.2:c.*230C>A	NP_001276866.1:n.*230C>A
NM_001382782.1:c.3561C>A	NP_001369711.1:p.Phe1187Leu
NM_001382783.1:c.3561C>A	NP_001369712.1:p.Phe1187Leu
NM_001382784.1:c.3768C>A	NP_001369713.1:p.Phe1256Leu
NM_001382785.1:c.3753C>A	NP_001369714.1:p.Phe1251Leu
NM_001382786.1:c.3732C>A	NP_001369715.1:p.Phe1244Leu
NM_001382787.1:c.3726C>A	NP_001369716.1:p.Phe1242Leu
NM_001382788.1:c.3681C>A	NP_001369717.1:p.Phe1227Leu
NM_001382789.1:c.3672C>A	NP_001369718.1:p.Phe1224Leu
NM_001382790.1:c.3648C>A	NP_001369719.1:p.Phe1216Leu
NM_001382791.1:c.3642C>A	NP_001369720.1:p.Phe1214Leu
NM_001382792.1:c.3615C>A	NP_001369721.1:p.Phe1205Leu
NM_001382793.1:c.3609C>A	NP_001369722.1:p.Phe1203Leu
NM_001382794.1:c.3609C>A	NP_001369723.1:p.Phe1203Leu
NM_001382795.1:c.3603C>A	NP_001369724.1:p.Phe1201Leu
NM_001382796.1:c.3564C>A	NP_001369725.1:p.Phe1188Leu
NM_001382797.1:c.3552C>A	NP_001369726.1:p.Phe1184Leu
NM_001382798.1:c.3495C>A	NP_001369727.1:p.Phe1165Leu
NM_001382799.1:c.3471C>A	NP_001369728.1:p.Phe1157Leu
NM_001382800.1:c.3465C>A	NP_001369729.1:p.Phe1155Leu
NM_001382801.1:c.3447C>A	NP_001369730.1:p.Phe1149Leu
NM_001382802.1:c.3393C>A	NP_001369731.1:p.Phe1131Leu
NM_001382803.1:c.*230C>A	NP_001369732.1:n.*230C>A
NM_001382804.1:c.2823C>A	NP_001369733.1:p.Phe941Leu
NM_001382805.1:c.2700C>A	NP_001369734.1:p.Phe900Leu
NM_001382806.1:c.2613C>A	NP_001369735.1:p.Phe871Leu
NM_004448.4:c.3651C>A MANE Select	NP_004439.2:p.Phe1217Leu
NR_110535.2:n.3889C>A