Canonical Allele Identifier: CA499671600

Gene: ERBB2

Linked Data

• ClinVar Variation Id: 1652698
• ClinVar RCV Id: RCV002158467
• dbSNP Id: rs2059831001
• gnomAD v4: 17-39727336-A-G
• MyVariant Identifiers: chr17:g.37883589A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727336A>G , CM000679.2:g.39727336A>G	GRCh38
NC_000017.10:g.37883589A>G , CM000679.1:g.37883589A>G	GRCh37
NC_000017.9:g.35137115A>G	NCBI36
NG_007503.1:g.44197A>G , LRG_724:g.44197A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3201A>G MANE Select	ENSP00000269571.4:p.Glu1067=
ENST00000269571.9:c.3201A>G	ENSP00000269571.4:p.Glu1067=
ENST00000406381.6:c.3111A>G	ENSP00000385185.2:p.Glu1037=
ENST00000445658.6:c.2373A>G	ENSP00000404047.2:p.Glu791=
ENST00000541774.5:c.3156A>G	ENSP00000446466.1:p.Glu1052=
ENST00000578373.5:c.*2991A>G	ENSP00000463427.1:n.*2991A>G
ENST00000584450.5:c.3159+333A>G	ENSP00000463714.1:n.3159+333A>G
ENST00000584601.5:c.3111A>G	ENSP00000462438.1:p.Glu1037=
NM_001005862.2:c.3111A>G , LRG_724t1:c.3111A>G	NP_001005862.1:p.Glu1037=
NM_001289936.1:c.3156A>G , LRG_724t4:c.3156A>G	NP_001276865.1:p.Glu1052=
NM_001289937.1:c.3159+333A>G	NP_001276866.1:n.3159+333A>G
NM_004448.3:c.3201A>G , LRG_724t2:c.3201A>G	NP_004439.2:p.Glu1067=
NR_110535.1:n.3525A>G
XM_024450641.1:c.3339A>G	XP_024306409.1:p.Glu1113=
XM_024450642.1:c.3294A>G	XP_024306410.1:p.Glu1098=
XM_024450643.1:c.3249A>G	XP_024306411.1:p.Glu1083=
NM_001005862.3:c.3111A>G	NP_001005862.1:p.Glu1037=
NM_001289936.2:c.3156A>G	NP_001276865.1:p.Glu1052=
NM_001289937.2:c.3159+333A>G	NP_001276866.1:n.3159+333A>G
NM_001382782.1:c.3111A>G	NP_001369711.1:p.Glu1037=
NM_001382783.1:c.3111A>G	NP_001369712.1:p.Glu1037=
NM_001382784.1:c.3318A>G	NP_001369713.1:p.Glu1106=
NM_001382785.1:c.3303A>G	NP_001369714.1:p.Glu1101=
NM_001382786.1:c.3282A>G	NP_001369715.1:p.Glu1094=
NM_001382787.1:c.3276A>G	NP_001369716.1:p.Glu1092=
NM_001382788.1:c.3231A>G	NP_001369717.1:p.Glu1077=
NM_001382789.1:c.3222A>G	NP_001369718.1:p.Glu1074=
NM_001382790.1:c.3198A>G	NP_001369719.1:p.Glu1066=
NM_001382791.1:c.3192A>G	NP_001369720.1:p.Glu1064=
NM_001382792.1:c.3165A>G	NP_001369721.1:p.Glu1055=
NM_001382793.1:c.3159A>G	NP_001369722.1:p.Glu1053=
NM_001382794.1:c.3159A>G	NP_001369723.1:p.Glu1053=
NM_001382795.1:c.3153A>G	NP_001369724.1:p.Glu1051=
NM_001382796.1:c.3114A>G	NP_001369725.1:p.Glu1038=
NM_001382797.1:c.3102A>G	NP_001369726.1:p.Glu1034=
NM_001382798.1:c.3045A>G	NP_001369727.1:p.Glu1015=
NM_001382799.1:c.3021A>G	NP_001369728.1:p.Glu1007=
NM_001382800.1:c.3015A>G	NP_001369729.1:p.Glu1005=
NM_001382801.1:c.2997A>G	NP_001369730.1:p.Glu999=
NM_001382802.1:c.2943A>G	NP_001369731.1:p.Glu981=
NM_001382803.1:c.3117+333A>G	NP_001369732.1:n.3117+333A>G
NM_001382804.1:c.2373A>G	NP_001369733.1:p.Glu791=
NM_001382805.1:c.2250A>G	NP_001369734.1:p.Glu750=
NM_001382806.1:c.2163A>G	NP_001369735.1:p.Glu721=
NM_004448.4:c.3201A>G MANE Select	NP_004439.2:p.Glu1067=
NR_110535.2:n.3439A>G