Canonical Allele Identifier: CA399314328

Gene: ERBB2

Linked Data

• dbSNP Id: rs1656652862
• MyVariant Identifiers: chr17:g.37884187C>T (hg19) ; chr17:g.39727934C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727934C>T , CM000679.2:g.39727934C>T	GRCh38
NC_000017.10:g.37884187C>T , CM000679.1:g.37884187C>T	GRCh37
NC_000017.9:g.35137713C>T	NCBI36
NG_007503.1:g.44795C>T , LRG_724:g.44795C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3658C>T MANE Select	ENSP00000269571.4:p.Leu1220Phe
ENST00000269571.9:c.3658C>T	ENSP00000269571.4:p.Leu1220Phe
ENST00000406381.6:c.3568C>T	ENSP00000385185.2:p.Leu1190Phe
ENST00000445658.6:c.2830C>T	ENSP00000404047.2:p.Leu944Phe
ENST00000541774.5:c.3613C>T	ENSP00000446466.1:p.Leu1205Phe
ENST00000578373.5:c.*3448C>T	ENSP00000463427.1:n.*3448C>T
ENST00000584450.5:c.*237C>T	ENSP00000463714.1:n.*237C>T
ENST00000584601.5:c.3568C>T	ENSP00000462438.1:p.Leu1190Phe
NM_001005862.2:c.3568C>T , LRG_724t1:c.3568C>T	NP_001005862.1:p.Leu1190Phe
NM_001289936.1:c.3613C>T , LRG_724t4:c.3613C>T	NP_001276865.1:p.Leu1205Phe
NM_001289937.1:c.*237C>T	NP_001276866.1:n.*237C>T
NM_004448.3:c.3658C>T , LRG_724t2:c.3658C>T	NP_004439.2:p.Leu1220Phe
NR_110535.1:n.3982C>T
XM_024450641.1:c.3796C>T	XP_024306409.1:p.Leu1266Phe
XM_024450642.1:c.3751C>T	XP_024306410.1:p.Leu1251Phe
XM_024450643.1:c.3706C>T	XP_024306411.1:p.Leu1236Phe
NM_001005862.3:c.3568C>T	NP_001005862.1:p.Leu1190Phe
NM_001289936.2:c.3613C>T	NP_001276865.1:p.Leu1205Phe
NM_001289937.2:c.*237C>T	NP_001276866.1:n.*237C>T
NM_001382782.1:c.3568C>T	NP_001369711.1:p.Leu1190Phe
NM_001382783.1:c.3568C>T	NP_001369712.1:p.Leu1190Phe
NM_001382784.1:c.3775C>T	NP_001369713.1:p.Leu1259Phe
NM_001382785.1:c.3760C>T	NP_001369714.1:p.Leu1254Phe
NM_001382786.1:c.3739C>T	NP_001369715.1:p.Leu1247Phe
NM_001382787.1:c.3733C>T	NP_001369716.1:p.Leu1245Phe
NM_001382788.1:c.3688C>T	NP_001369717.1:p.Leu1230Phe
NM_001382789.1:c.3679C>T	NP_001369718.1:p.Leu1227Phe
NM_001382790.1:c.3655C>T	NP_001369719.1:p.Leu1219Phe
NM_001382791.1:c.3649C>T	NP_001369720.1:p.Leu1217Phe
NM_001382792.1:c.3622C>T	NP_001369721.1:p.Leu1208Phe
NM_001382793.1:c.3616C>T	NP_001369722.1:p.Leu1206Phe
NM_001382794.1:c.3616C>T	NP_001369723.1:p.Leu1206Phe
NM_001382795.1:c.3610C>T	NP_001369724.1:p.Leu1204Phe
NM_001382796.1:c.3571C>T	NP_001369725.1:p.Leu1191Phe
NM_001382797.1:c.3559C>T	NP_001369726.1:p.Leu1187Phe
NM_001382798.1:c.3502C>T	NP_001369727.1:p.Leu1168Phe
NM_001382799.1:c.3478C>T	NP_001369728.1:p.Leu1160Phe
NM_001382800.1:c.3472C>T	NP_001369729.1:p.Leu1158Phe
NM_001382801.1:c.3454C>T	NP_001369730.1:p.Leu1152Phe
NM_001382802.1:c.3400C>T	NP_001369731.1:p.Leu1134Phe
NM_001382803.1:c.*237C>T	NP_001369732.1:n.*237C>T
NM_001382804.1:c.2830C>T	NP_001369733.1:p.Leu944Phe
NM_001382805.1:c.2707C>T	NP_001369734.1:p.Leu903Phe
NM_001382806.1:c.2620C>T	NP_001369735.1:p.Leu874Phe
NM_004448.4:c.3658C>T MANE Select	NP_004439.2:p.Leu1220Phe
NR_110535.2:n.3896C>T