Canonical Allele Identifier: CA499890605

Gene: ERBB2

Linked Data

• dbSNP Id: rs1210088528
• gnomAD v4: 17-39727757-C-A
• COSMIC: COSM472700
• MyVariant Identifiers: chr17:g.37884010C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727757C>A , CM000679.2:g.39727757C>A	GRCh38
NC_000017.10:g.37884010C>A , CM000679.1:g.37884010C>A	GRCh37
NC_000017.9:g.35137536C>A	NCBI36
NG_007503.1:g.44618C>A , LRG_724:g.44618C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3481C>A MANE Select	ENSP00000269571.4:p.Arg1161=
ENST00000269571.9:c.3481C>A	ENSP00000269571.4:p.Arg1161=
ENST00000406381.6:c.3391C>A	ENSP00000385185.2:p.Arg1131=
ENST00000445658.6:c.2653C>A	ENSP00000404047.2:p.Arg885=
ENST00000541774.5:c.3436C>A	ENSP00000446466.1:p.Arg1146=
ENST00000578373.5:c.*3271C>A	ENSP00000463427.1:n.*3271C>A
ENST00000584450.5:c.*60C>A	ENSP00000463714.1:n.*60C>A
ENST00000584601.5:c.3391C>A	ENSP00000462438.1:p.Arg1131=
NM_001005862.2:c.3391C>A , LRG_724t1:c.3391C>A	NP_001005862.1:p.Arg1131=
NM_001289936.1:c.3436C>A , LRG_724t4:c.3436C>A	NP_001276865.1:p.Arg1146=
NM_001289937.1:c.*60C>A	NP_001276866.1:n.*60C>A
NM_004448.3:c.3481C>A , LRG_724t2:c.3481C>A	NP_004439.2:p.Arg1161=
NR_110535.1:n.3805C>A
XM_024450641.1:c.3619C>A	XP_024306409.1:p.Arg1207=
XM_024450642.1:c.3574C>A	XP_024306410.1:p.Arg1192=
XM_024450643.1:c.3529C>A	XP_024306411.1:p.Arg1177=
NM_001005862.3:c.3391C>A	NP_001005862.1:p.Arg1131=
NM_001289936.2:c.3436C>A	NP_001276865.1:p.Arg1146=
NM_001289937.2:c.*60C>A	NP_001276866.1:n.*60C>A
NM_001382782.1:c.3391C>A	NP_001369711.1:p.Arg1131=
NM_001382783.1:c.3391C>A	NP_001369712.1:p.Arg1131=
NM_001382784.1:c.3598C>A	NP_001369713.1:p.Arg1200=
NM_001382785.1:c.3583C>A	NP_001369714.1:p.Arg1195=
NM_001382786.1:c.3562C>A	NP_001369715.1:p.Arg1188=
NM_001382787.1:c.3556C>A	NP_001369716.1:p.Arg1186=
NM_001382788.1:c.3511C>A	NP_001369717.1:p.Arg1171=
NM_001382789.1:c.3502C>A	NP_001369718.1:p.Arg1168=
NM_001382790.1:c.3478C>A	NP_001369719.1:p.Arg1160=
NM_001382791.1:c.3472C>A	NP_001369720.1:p.Arg1158=
NM_001382792.1:c.3445C>A	NP_001369721.1:p.Arg1149=
NM_001382793.1:c.3439C>A	NP_001369722.1:p.Arg1147=
NM_001382794.1:c.3439C>A	NP_001369723.1:p.Arg1147=
NM_001382795.1:c.3433C>A	NP_001369724.1:p.Arg1145=
NM_001382796.1:c.3394C>A	NP_001369725.1:p.Arg1132=
NM_001382797.1:c.3382C>A	NP_001369726.1:p.Arg1128=
NM_001382798.1:c.3325C>A	NP_001369727.1:p.Arg1109=
NM_001382799.1:c.3301C>A	NP_001369728.1:p.Arg1101=
NM_001382800.1:c.3295C>A	NP_001369729.1:p.Arg1099=
NM_001382801.1:c.3277C>A	NP_001369730.1:p.Arg1093=
NM_001382802.1:c.3223C>A	NP_001369731.1:p.Arg1075=
NM_001382803.1:c.*60C>A	NP_001369732.1:n.*60C>A
NM_001382804.1:c.2653C>A	NP_001369733.1:p.Arg885=
NM_001382805.1:c.2530C>A	NP_001369734.1:p.Arg844=
NM_001382806.1:c.2443C>A	NP_001369735.1:p.Arg815=
NM_004448.4:c.3481C>A MANE Select	NP_004439.2:p.Arg1161=
NR_110535.2:n.3719C>A