Canonical Allele Identifier: CA399314398

Gene: ERBB2

Linked Data

• gnomAD v4: 17-39727943-T-C
• MyVariant Identifiers: chr17:g.37884196T>C (hg19) ; chr17:g.39727943T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727943T>C , CM000679.2:g.39727943T>C	GRCh38
NC_000017.10:g.37884196T>C , CM000679.1:g.37884196T>C	GRCh37
NC_000017.9:g.35137722T>C	NCBI36
NG_007503.1:g.44804T>C , LRG_724:g.44804T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3667T>C MANE Select	ENSP00000269571.4:p.Trp1223Arg
ENST00000269571.9:c.3667T>C	ENSP00000269571.4:p.Trp1223Arg
ENST00000406381.6:c.3577T>C	ENSP00000385185.2:p.Trp1193Arg
ENST00000445658.6:c.2839T>C	ENSP00000404047.2:p.Trp947Arg
ENST00000541774.5:c.3622T>C	ENSP00000446466.1:p.Trp1208Arg
ENST00000578373.5:c.*3457T>C	ENSP00000463427.1:n.*3457T>C
ENST00000584450.5:c.*246T>C	ENSP00000463714.1:n.*246T>C
ENST00000584601.5:c.3577T>C	ENSP00000462438.1:p.Trp1193Arg
NM_001005862.2:c.3577T>C , LRG_724t1:c.3577T>C	NP_001005862.1:p.Trp1193Arg
NM_001289936.1:c.3622T>C , LRG_724t4:c.3622T>C	NP_001276865.1:p.Trp1208Arg
NM_001289937.1:c.*246T>C	NP_001276866.1:n.*246T>C
NM_004448.3:c.3667T>C , LRG_724t2:c.3667T>C	NP_004439.2:p.Trp1223Arg
NR_110535.1:n.3991T>C
XM_024450641.1:c.3805T>C	XP_024306409.1:p.Trp1269Arg
XM_024450642.1:c.3760T>C	XP_024306410.1:p.Trp1254Arg
XM_024450643.1:c.3715T>C	XP_024306411.1:p.Trp1239Arg
NM_001005862.3:c.3577T>C	NP_001005862.1:p.Trp1193Arg
NM_001289936.2:c.3622T>C	NP_001276865.1:p.Trp1208Arg
NM_001289937.2:c.*246T>C	NP_001276866.1:n.*246T>C
NM_001382782.1:c.3577T>C	NP_001369711.1:p.Trp1193Arg
NM_001382783.1:c.3577T>C	NP_001369712.1:p.Trp1193Arg
NM_001382784.1:c.3784T>C	NP_001369713.1:p.Trp1262Arg
NM_001382785.1:c.3769T>C	NP_001369714.1:p.Trp1257Arg
NM_001382786.1:c.3748T>C	NP_001369715.1:p.Trp1250Arg
NM_001382787.1:c.3742T>C	NP_001369716.1:p.Trp1248Arg
NM_001382788.1:c.3697T>C	NP_001369717.1:p.Trp1233Arg
NM_001382789.1:c.3688T>C	NP_001369718.1:p.Trp1230Arg
NM_001382790.1:c.3664T>C	NP_001369719.1:p.Trp1222Arg
NM_001382791.1:c.3658T>C	NP_001369720.1:p.Trp1220Arg
NM_001382792.1:c.3631T>C	NP_001369721.1:p.Trp1211Arg
NM_001382793.1:c.3625T>C	NP_001369722.1:p.Trp1209Arg
NM_001382794.1:c.3625T>C	NP_001369723.1:p.Trp1209Arg
NM_001382795.1:c.3619T>C	NP_001369724.1:p.Trp1207Arg
NM_001382796.1:c.3580T>C	NP_001369725.1:p.Trp1194Arg
NM_001382797.1:c.3568T>C	NP_001369726.1:p.Trp1190Arg
NM_001382798.1:c.3511T>C	NP_001369727.1:p.Trp1171Arg
NM_001382799.1:c.3487T>C	NP_001369728.1:p.Trp1163Arg
NM_001382800.1:c.3481T>C	NP_001369729.1:p.Trp1161Arg
NM_001382801.1:c.3463T>C	NP_001369730.1:p.Trp1155Arg
NM_001382802.1:c.3409T>C	NP_001369731.1:p.Trp1137Arg
NM_001382803.1:c.*246T>C	NP_001369732.1:n.*246T>C
NM_001382804.1:c.2839T>C	NP_001369733.1:p.Trp947Arg
NM_001382805.1:c.2716T>C	NP_001369734.1:p.Trp906Arg
NM_001382806.1:c.2629T>C	NP_001369735.1:p.Trp877Arg
NM_004448.4:c.3667T>C MANE Select	NP_004439.2:p.Trp1223Arg
NR_110535.2:n.3905T>C