Canonical Allele Identifier: CA8534524

Gene: ERBB2

Linked Data

• ClinVar Variation Id: 1034543
• ClinVar RCV Id: RCV001337283
• dbSNP Id: rs763276772
• ExAC: 17:37883720 G / A
• gnomAD v2: 17-37883720-G-A
• gnomAD v3: 17-39727467-G-A
• gnomAD v4: 17-39727467-G-A
• MyVariant Identifiers: chr17:g.37883720G>A (hg19) ; chr17:g.39727467G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727467G>A , CM000679.2:g.39727467G>A	GRCh38
NC_000017.10:g.37883720G>A , CM000679.1:g.37883720G>A	GRCh37
NC_000017.9:g.35137246G>A	NCBI36
NG_007503.1:g.44328G>A , LRG_724:g.44328G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3332G>A MANE Select	ENSP00000269571.4:p.Arg1111Gln
ENST00000269571.9:c.3332G>A	ENSP00000269571.4:p.Arg1111Gln
ENST00000406381.6:c.3242G>A	ENSP00000385185.2:p.Arg1081Gln
ENST00000445658.6:c.2504G>A	ENSP00000404047.2:p.Arg835Gln
ENST00000541774.5:c.3287G>A	ENSP00000446466.1:p.Arg1096Gln
ENST00000578373.5:c.*3122G>A	ENSP00000463427.1:n.*3122G>A
ENST00000584450.5:c.3160-222G>A	ENSP00000463714.1:n.3160-222G>A
ENST00000584601.5:c.3242G>A	ENSP00000462438.1:p.Arg1081Gln
NM_001005862.2:c.3242G>A , LRG_724t1:c.3242G>A	NP_001005862.1:p.Arg1081Gln
NM_001289936.1:c.3287G>A , LRG_724t4:c.3287G>A	NP_001276865.1:p.Arg1096Gln
NM_001289937.1:c.3160-222G>A	NP_001276866.1:n.3160-222G>A
NM_004448.3:c.3332G>A , LRG_724t2:c.3332G>A	NP_004439.2:p.Arg1111Gln
NR_110535.1:n.3656G>A
XM_024450641.1:c.3470G>A	XP_024306409.1:p.Arg1157Gln
XM_024450642.1:c.3425G>A	XP_024306410.1:p.Arg1142Gln
XM_024450643.1:c.3380G>A	XP_024306411.1:p.Arg1127Gln
NM_001005862.3:c.3242G>A	NP_001005862.1:p.Arg1081Gln
NM_001289936.2:c.3287G>A	NP_001276865.1:p.Arg1096Gln
NM_001289937.2:c.3160-222G>A	NP_001276866.1:n.3160-222G>A
NM_001382782.1:c.3242G>A	NP_001369711.1:p.Arg1081Gln
NM_001382783.1:c.3242G>A	NP_001369712.1:p.Arg1081Gln
NM_001382784.1:c.3449G>A	NP_001369713.1:p.Arg1150Gln
NM_001382785.1:c.3434G>A	NP_001369714.1:p.Arg1145Gln
NM_001382786.1:c.3413G>A	NP_001369715.1:p.Arg1138Gln
NM_001382787.1:c.3407G>A	NP_001369716.1:p.Arg1136Gln
NM_001382788.1:c.3362G>A	NP_001369717.1:p.Arg1121Gln
NM_001382789.1:c.3353G>A	NP_001369718.1:p.Arg1118Gln
NM_001382790.1:c.3329G>A	NP_001369719.1:p.Arg1110Gln
NM_001382791.1:c.3323G>A	NP_001369720.1:p.Arg1108Gln
NM_001382792.1:c.3296G>A	NP_001369721.1:p.Arg1099Gln
NM_001382793.1:c.3290G>A	NP_001369722.1:p.Arg1097Gln
NM_001382794.1:c.3290G>A	NP_001369723.1:p.Arg1097Gln
NM_001382795.1:c.3284G>A	NP_001369724.1:p.Arg1095Gln
NM_001382796.1:c.3245G>A	NP_001369725.1:p.Arg1082Gln
NM_001382797.1:c.3233G>A	NP_001369726.1:p.Arg1078Gln
NM_001382798.1:c.3176G>A	NP_001369727.1:p.Arg1059Gln
NM_001382799.1:c.3152G>A	NP_001369728.1:p.Arg1051Gln
NM_001382800.1:c.3146G>A	NP_001369729.1:p.Arg1049Gln
NM_001382801.1:c.3128G>A	NP_001369730.1:p.Arg1043Gln
NM_001382802.1:c.3074G>A	NP_001369731.1:p.Arg1025Gln
NM_001382803.1:c.3118-222G>A	NP_001369732.1:n.3118-222G>A
NM_001382804.1:c.2504G>A	NP_001369733.1:p.Arg835Gln
NM_001382805.1:c.2381G>A	NP_001369734.1:p.Arg794Gln
NM_001382806.1:c.2294G>A	NP_001369735.1:p.Arg765Gln
NM_004448.4:c.3332G>A MANE Select	NP_004439.2:p.Arg1111Gln
NR_110535.2:n.3570G>A