Canonical Allele Identifier: CA399314331

Gene: ERBB2

Linked Data

• dbSNP Id: rs1656652862
• gnomAD v4: 17-39727934-C-G
• MyVariant Identifiers: chr17:g.37884187C>G (hg19) ; chr17:g.39727934C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3658C>G MANE Select	ENSP00000269571.4:p.Leu1220Val
ENST00000269571.9:c.3658C>G	ENSP00000269571.4:p.Leu1220Val
ENST00000406381.6:c.3568C>G	ENSP00000385185.2:p.Leu1190Val
ENST00000445658.6:c.2830C>G	ENSP00000404047.2:p.Leu944Val
ENST00000541774.5:c.3613C>G	ENSP00000446466.1:p.Leu1205Val
ENST00000578373.5:c.*3448C>G	ENSP00000463427.1:n.*3448C>G
ENST00000584450.5:c.*237C>G	ENSP00000463714.1:n.*237C>G
ENST00000584601.5:c.3568C>G	ENSP00000462438.1:p.Leu1190Val
NM_001005862.2:c.3568C>G , LRG_724t1:c.3568C>G	NP_001005862.1:p.Leu1190Val
NM_001289936.1:c.3613C>G , LRG_724t4:c.3613C>G	NP_001276865.1:p.Leu1205Val
NM_001289937.1:c.*237C>G	NP_001276866.1:n.*237C>G
NM_004448.3:c.3658C>G , LRG_724t2:c.3658C>G	NP_004439.2:p.Leu1220Val
NR_110535.1:n.3982C>G
XM_024450641.1:c.3796C>G	XP_024306409.1:p.Leu1266Val
XM_024450642.1:c.3751C>G	XP_024306410.1:p.Leu1251Val
XM_024450643.1:c.3706C>G	XP_024306411.1:p.Leu1236Val
NM_001005862.3:c.3568C>G	NP_001005862.1:p.Leu1190Val
NM_001289936.2:c.3613C>G	NP_001276865.1:p.Leu1205Val
NM_001289937.2:c.*237C>G	NP_001276866.1:n.*237C>G
NM_001382782.1:c.3568C>G	NP_001369711.1:p.Leu1190Val
NM_001382783.1:c.3568C>G	NP_001369712.1:p.Leu1190Val
NM_001382784.1:c.3775C>G	NP_001369713.1:p.Leu1259Val
NM_001382785.1:c.3760C>G	NP_001369714.1:p.Leu1254Val
NM_001382786.1:c.3739C>G	NP_001369715.1:p.Leu1247Val
NM_001382787.1:c.3733C>G	NP_001369716.1:p.Leu1245Val
NM_001382788.1:c.3688C>G	NP_001369717.1:p.Leu1230Val
NM_001382789.1:c.3679C>G	NP_001369718.1:p.Leu1227Val
NM_001382790.1:c.3655C>G	NP_001369719.1:p.Leu1219Val
NM_001382791.1:c.3649C>G	NP_001369720.1:p.Leu1217Val
NM_001382792.1:c.3622C>G	NP_001369721.1:p.Leu1208Val
NM_001382793.1:c.3616C>G	NP_001369722.1:p.Leu1206Val
NM_001382794.1:c.3616C>G	NP_001369723.1:p.Leu1206Val
NM_001382795.1:c.3610C>G	NP_001369724.1:p.Leu1204Val
NM_001382796.1:c.3571C>G	NP_001369725.1:p.Leu1191Val
NM_001382797.1:c.3559C>G	NP_001369726.1:p.Leu1187Val
NM_001382798.1:c.3502C>G	NP_001369727.1:p.Leu1168Val
NM_001382799.1:c.3478C>G	NP_001369728.1:p.Leu1160Val
NM_001382800.1:c.3472C>G	NP_001369729.1:p.Leu1158Val
NM_001382801.1:c.3454C>G	NP_001369730.1:p.Leu1152Val
NM_001382802.1:c.3400C>G	NP_001369731.1:p.Leu1134Val
NM_001382803.1:c.*237C>G	NP_001369732.1:n.*237C>G
NM_001382804.1:c.2830C>G	NP_001369733.1:p.Leu944Val
NM_001382805.1:c.2707C>G	NP_001369734.1:p.Leu903Val
NM_001382806.1:c.2620C>G	NP_001369735.1:p.Leu874Val
NM_004448.4:c.3658C>G MANE Select	NP_004439.2:p.Leu1220Val
NR_110535.2:n.3896C>G