Canonical Allele Identifier: CA8534582

Gene: ERBB2

Linked Data

• ClinVar Variation Id: 1429912
• ClinVar RCV Id: RCV001939165
• dbSNP Id: rs763027953
• ExAC: 17:37884073 A / C
• gnomAD v2: 17-37884073-A-C
• gnomAD v3: 17-39727820-A-C
• gnomAD v4: 17-39727820-A-C
• MyVariant Identifiers: chr17:g.37884073A>C (hg19) ; chr17:g.39727820A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727820A>C , CM000679.2:g.39727820A>C	GRCh38
NC_000017.10:g.37884073A>C , CM000679.1:g.37884073A>C	GRCh37
NC_000017.9:g.35137599A>C	NCBI36
NG_007503.1:g.44681A>C , LRG_724:g.44681A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3544A>C MANE Select	ENSP00000269571.4:p.Lys1182Gln
ENST00000269571.9:c.3544A>C	ENSP00000269571.4:p.Lys1182Gln
ENST00000406381.6:c.3454A>C	ENSP00000385185.2:p.Lys1152Gln
ENST00000445658.6:c.2716A>C	ENSP00000404047.2:p.Lys906Gln
ENST00000541774.5:c.3499A>C	ENSP00000446466.1:p.Lys1167Gln
ENST00000578373.5:c.*3334A>C	ENSP00000463427.1:n.*3334A>C
ENST00000584450.5:c.*123A>C	ENSP00000463714.1:n.*123A>C
ENST00000584601.5:c.3454A>C	ENSP00000462438.1:p.Lys1152Gln
NM_001005862.2:c.3454A>C , LRG_724t1:c.3454A>C	NP_001005862.1:p.Lys1152Gln
NM_001289936.1:c.3499A>C , LRG_724t4:c.3499A>C	NP_001276865.1:p.Lys1167Gln
NM_001289937.1:c.*123A>C	NP_001276866.1:n.*123A>C
NM_004448.3:c.3544A>C , LRG_724t2:c.3544A>C	NP_004439.2:p.Lys1182Gln
NR_110535.1:n.3868A>C
XM_024450641.1:c.3682A>C	XP_024306409.1:p.Lys1228Gln
XM_024450642.1:c.3637A>C	XP_024306410.1:p.Lys1213Gln
XM_024450643.1:c.3592A>C	XP_024306411.1:p.Lys1198Gln
NM_001005862.3:c.3454A>C	NP_001005862.1:p.Lys1152Gln
NM_001289936.2:c.3499A>C	NP_001276865.1:p.Lys1167Gln
NM_001289937.2:c.*123A>C	NP_001276866.1:n.*123A>C
NM_001382782.1:c.3454A>C	NP_001369711.1:p.Lys1152Gln
NM_001382783.1:c.3454A>C	NP_001369712.1:p.Lys1152Gln
NM_001382784.1:c.3661A>C	NP_001369713.1:p.Lys1221Gln
NM_001382785.1:c.3646A>C	NP_001369714.1:p.Lys1216Gln
NM_001382786.1:c.3625A>C	NP_001369715.1:p.Lys1209Gln
NM_001382787.1:c.3619A>C	NP_001369716.1:p.Lys1207Gln
NM_001382788.1:c.3574A>C	NP_001369717.1:p.Lys1192Gln
NM_001382789.1:c.3565A>C	NP_001369718.1:p.Lys1189Gln
NM_001382790.1:c.3541A>C	NP_001369719.1:p.Lys1181Gln
NM_001382791.1:c.3535A>C	NP_001369720.1:p.Lys1179Gln
NM_001382792.1:c.3508A>C	NP_001369721.1:p.Lys1170Gln
NM_001382793.1:c.3502A>C	NP_001369722.1:p.Lys1168Gln
NM_001382794.1:c.3502A>C	NP_001369723.1:p.Lys1168Gln
NM_001382795.1:c.3496A>C	NP_001369724.1:p.Lys1166Gln
NM_001382796.1:c.3457A>C	NP_001369725.1:p.Lys1153Gln
NM_001382797.1:c.3445A>C	NP_001369726.1:p.Lys1149Gln
NM_001382798.1:c.3388A>C	NP_001369727.1:p.Lys1130Gln
NM_001382799.1:c.3364A>C	NP_001369728.1:p.Lys1122Gln
NM_001382800.1:c.3358A>C	NP_001369729.1:p.Lys1120Gln
NM_001382801.1:c.3340A>C	NP_001369730.1:p.Lys1114Gln
NM_001382802.1:c.3286A>C	NP_001369731.1:p.Lys1096Gln
NM_001382803.1:c.*123A>C	NP_001369732.1:n.*123A>C
NM_001382804.1:c.2716A>C	NP_001369733.1:p.Lys906Gln
NM_001382805.1:c.2593A>C	NP_001369734.1:p.Lys865Gln
NM_001382806.1:c.2506A>C	NP_001369735.1:p.Lys836Gln
NM_004448.4:c.3544A>C MANE Select	NP_004439.2:p.Lys1182Gln
NR_110535.2:n.3782A>C