Canonical Allele Identifier: CA499671683

Gene: ERBB2

Linked Data

• gnomAD v4: 17-39727964-C-A
• MyVariant Identifiers: chr17:g.37884217C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727964C>A , CM000679.2:g.39727964C>A	GRCh38
NC_000017.10:g.37884217C>A , CM000679.1:g.37884217C>A	GRCh37
NC_000017.9:g.35137743C>A	NCBI36
NG_007503.1:g.44825C>A , LRG_724:g.44825C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3688C>A MANE Select	ENSP00000269571.4:p.Arg1230=
ENST00000269571.9:c.3688C>A	ENSP00000269571.4:p.Arg1230=
ENST00000406381.6:c.3598C>A	ENSP00000385185.2:p.Arg1200=
ENST00000445658.6:c.2860C>A	ENSP00000404047.2:p.Arg954=
ENST00000541774.5:c.3643C>A	ENSP00000446466.1:p.Arg1215=
ENST00000578373.5:c.*3478C>A	ENSP00000463427.1:n.*3478C>A
ENST00000584450.5:c.*267C>A	ENSP00000463714.1:n.*267C>A
ENST00000584601.5:c.3598C>A	ENSP00000462438.1:p.Arg1200=
NM_001005862.2:c.3598C>A , LRG_724t1:c.3598C>A	NP_001005862.1:p.Arg1200=
NM_001289936.1:c.3643C>A , LRG_724t4:c.3643C>A	NP_001276865.1:p.Arg1215=
NM_001289937.1:c.*267C>A	NP_001276866.1:n.*267C>A
NM_004448.3:c.3688C>A , LRG_724t2:c.3688C>A	NP_004439.2:p.Arg1230=
NR_110535.1:n.4012C>A
XM_024450641.1:c.3826C>A	XP_024306409.1:p.Arg1276=
XM_024450642.1:c.3781C>A	XP_024306410.1:p.Arg1261=
XM_024450643.1:c.3736C>A	XP_024306411.1:p.Arg1246=
NM_001005862.3:c.3598C>A	NP_001005862.1:p.Arg1200=
NM_001289936.2:c.3643C>A	NP_001276865.1:p.Arg1215=
NM_001289937.2:c.*267C>A	NP_001276866.1:n.*267C>A
NM_001382782.1:c.3598C>A	NP_001369711.1:p.Arg1200=
NM_001382783.1:c.3598C>A	NP_001369712.1:p.Arg1200=
NM_001382784.1:c.3805C>A	NP_001369713.1:p.Arg1269=
NM_001382785.1:c.3790C>A	NP_001369714.1:p.Arg1264=
NM_001382786.1:c.3769C>A	NP_001369715.1:p.Arg1257=
NM_001382787.1:c.3763C>A	NP_001369716.1:p.Arg1255=
NM_001382788.1:c.3718C>A	NP_001369717.1:p.Arg1240=
NM_001382789.1:c.3709C>A	NP_001369718.1:p.Arg1237=
NM_001382790.1:c.3685C>A	NP_001369719.1:p.Arg1229=
NM_001382791.1:c.3679C>A	NP_001369720.1:p.Arg1227=
NM_001382792.1:c.3652C>A	NP_001369721.1:p.Arg1218=
NM_001382793.1:c.3646C>A	NP_001369722.1:p.Arg1216=
NM_001382794.1:c.3646C>A	NP_001369723.1:p.Arg1216=
NM_001382795.1:c.3640C>A	NP_001369724.1:p.Arg1214=
NM_001382796.1:c.3601C>A	NP_001369725.1:p.Arg1201=
NM_001382797.1:c.3589C>A	NP_001369726.1:p.Arg1197=
NM_001382798.1:c.3532C>A	NP_001369727.1:p.Arg1178=
NM_001382799.1:c.3508C>A	NP_001369728.1:p.Arg1170=
NM_001382800.1:c.3502C>A	NP_001369729.1:p.Arg1168=
NM_001382801.1:c.3484C>A	NP_001369730.1:p.Arg1162=
NM_001382802.1:c.3430C>A	NP_001369731.1:p.Arg1144=
NM_001382803.1:c.*267C>A	NP_001369732.1:n.*267C>A
NM_001382804.1:c.2860C>A	NP_001369733.1:p.Arg954=
NM_001382805.1:c.2737C>A	NP_001369734.1:p.Arg913=
NM_001382806.1:c.2650C>A	NP_001369735.1:p.Arg884=
NM_004448.4:c.3688C>A MANE Select	NP_004439.2:p.Arg1230=
NR_110535.2:n.3926C>A