Canonical Allele Identifier: CA8534585

Gene: ERBB2

Linked Data

• ClinVar Variation Id: 1439345
• ClinVar RCV Id: RCV001958101
• dbSNP Id: rs761715861
• ExAC: 17:37884079 G / A
• gnomAD v2: 17-37884079-G-A
• gnomAD v3: 17-39727826-G-A
• gnomAD v4: 17-39727826-G-A
• MyVariant Identifiers: chr17:g.37884079G>A (hg19) ; chr17:g.39727826G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727826G>A , CM000679.2:g.39727826G>A	GRCh38
NC_000017.10:g.37884079G>A , CM000679.1:g.37884079G>A	GRCh37
NC_000017.9:g.35137605G>A	NCBI36
NG_007503.1:g.44687G>A , LRG_724:g.44687G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3550G>A MANE Select	ENSP00000269571.4:p.Val1184Ile
ENST00000269571.9:c.3550G>A	ENSP00000269571.4:p.Val1184Ile
ENST00000406381.6:c.3460G>A	ENSP00000385185.2:p.Val1154Ile
ENST00000445658.6:c.2722G>A	ENSP00000404047.2:p.Val908Ile
ENST00000541774.5:c.3505G>A	ENSP00000446466.1:p.Val1169Ile
ENST00000578373.5:c.*3340G>A	ENSP00000463427.1:n.*3340G>A
ENST00000584450.5:c.*129G>A	ENSP00000463714.1:n.*129G>A
ENST00000584601.5:c.3460G>A	ENSP00000462438.1:p.Val1154Ile
NM_001005862.2:c.3460G>A , LRG_724t1:c.3460G>A	NP_001005862.1:p.Val1154Ile
NM_001289936.1:c.3505G>A , LRG_724t4:c.3505G>A	NP_001276865.1:p.Val1169Ile
NM_001289937.1:c.*129G>A	NP_001276866.1:n.*129G>A
NM_004448.3:c.3550G>A , LRG_724t2:c.3550G>A	NP_004439.2:p.Val1184Ile
NR_110535.1:n.3874G>A
XM_024450641.1:c.3688G>A	XP_024306409.1:p.Val1230Ile
XM_024450642.1:c.3643G>A	XP_024306410.1:p.Val1215Ile
XM_024450643.1:c.3598G>A	XP_024306411.1:p.Val1200Ile
NM_001005862.3:c.3460G>A	NP_001005862.1:p.Val1154Ile
NM_001289936.2:c.3505G>A	NP_001276865.1:p.Val1169Ile
NM_001289937.2:c.*129G>A	NP_001276866.1:n.*129G>A
NM_001382782.1:c.3460G>A	NP_001369711.1:p.Val1154Ile
NM_001382783.1:c.3460G>A	NP_001369712.1:p.Val1154Ile
NM_001382784.1:c.3667G>A	NP_001369713.1:p.Val1223Ile
NM_001382785.1:c.3652G>A	NP_001369714.1:p.Val1218Ile
NM_001382786.1:c.3631G>A	NP_001369715.1:p.Val1211Ile
NM_001382787.1:c.3625G>A	NP_001369716.1:p.Val1209Ile
NM_001382788.1:c.3580G>A	NP_001369717.1:p.Val1194Ile
NM_001382789.1:c.3571G>A	NP_001369718.1:p.Val1191Ile
NM_001382790.1:c.3547G>A	NP_001369719.1:p.Val1183Ile
NM_001382791.1:c.3541G>A	NP_001369720.1:p.Val1181Ile
NM_001382792.1:c.3514G>A	NP_001369721.1:p.Val1172Ile
NM_001382793.1:c.3508G>A	NP_001369722.1:p.Val1170Ile
NM_001382794.1:c.3508G>A	NP_001369723.1:p.Val1170Ile
NM_001382795.1:c.3502G>A	NP_001369724.1:p.Val1168Ile
NM_001382796.1:c.3463G>A	NP_001369725.1:p.Val1155Ile
NM_001382797.1:c.3451G>A	NP_001369726.1:p.Val1151Ile
NM_001382798.1:c.3394G>A	NP_001369727.1:p.Val1132Ile
NM_001382799.1:c.3370G>A	NP_001369728.1:p.Val1124Ile
NM_001382800.1:c.3364G>A	NP_001369729.1:p.Val1122Ile
NM_001382801.1:c.3346G>A	NP_001369730.1:p.Val1116Ile
NM_001382802.1:c.3292G>A	NP_001369731.1:p.Val1098Ile
NM_001382803.1:c.*129G>A	NP_001369732.1:n.*129G>A
NM_001382804.1:c.2722G>A	NP_001369733.1:p.Val908Ile
NM_001382805.1:c.2599G>A	NP_001369734.1:p.Val867Ile
NM_001382806.1:c.2512G>A	NP_001369735.1:p.Val838Ile
NM_004448.4:c.3550G>A MANE Select	NP_004439.2:p.Val1184Ile
NR_110535.2:n.3788G>A