Canonical Allele Identifier: CA399313383

Gene: ERBB2

Linked Data

• ClinVar Variation Id: 1493972
• ClinVar RCV Id: RCV001986879
• dbSNP Id: rs1302671977
• gnomAD v3: 17-39727809-A-G
• gnomAD v4: 17-39727809-A-G
• MyVariant Identifiers: chr17:g.37884062A>G (hg19) ; chr17:g.39727809A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727809A>G , CM000679.2:g.39727809A>G	GRCh38
NC_000017.10:g.37884062A>G , CM000679.1:g.37884062A>G	GRCh37
NC_000017.9:g.35137588A>G	NCBI36
NG_007503.1:g.44670A>G , LRG_724:g.44670A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3533A>G MANE Select	ENSP00000269571.4:p.Asn1178Ser
ENST00000269571.9:c.3533A>G	ENSP00000269571.4:p.Asn1178Ser
ENST00000406381.6:c.3443A>G	ENSP00000385185.2:p.Asn1148Ser
ENST00000445658.6:c.2705A>G	ENSP00000404047.2:p.Asn902Ser
ENST00000541774.5:c.3488A>G	ENSP00000446466.1:p.Asn1163Ser
ENST00000578373.5:c.*3323A>G	ENSP00000463427.1:n.*3323A>G
ENST00000584450.5:c.*112A>G	ENSP00000463714.1:n.*112A>G
ENST00000584601.5:c.3443A>G	ENSP00000462438.1:p.Asn1148Ser
NM_001005862.2:c.3443A>G , LRG_724t1:c.3443A>G	NP_001005862.1:p.Asn1148Ser
NM_001289936.1:c.3488A>G , LRG_724t4:c.3488A>G	NP_001276865.1:p.Asn1163Ser
NM_001289937.1:c.*112A>G	NP_001276866.1:n.*112A>G
NM_004448.3:c.3533A>G , LRG_724t2:c.3533A>G	NP_004439.2:p.Asn1178Ser
NR_110535.1:n.3857A>G
XM_024450641.1:c.3671A>G	XP_024306409.1:p.Asn1224Ser
XM_024450642.1:c.3626A>G	XP_024306410.1:p.Asn1209Ser
XM_024450643.1:c.3581A>G	XP_024306411.1:p.Asn1194Ser
NM_001005862.3:c.3443A>G	NP_001005862.1:p.Asn1148Ser
NM_001289936.2:c.3488A>G	NP_001276865.1:p.Asn1163Ser
NM_001289937.2:c.*112A>G	NP_001276866.1:n.*112A>G
NM_001382782.1:c.3443A>G	NP_001369711.1:p.Asn1148Ser
NM_001382783.1:c.3443A>G	NP_001369712.1:p.Asn1148Ser
NM_001382784.1:c.3650A>G	NP_001369713.1:p.Asn1217Ser
NM_001382785.1:c.3635A>G	NP_001369714.1:p.Asn1212Ser
NM_001382786.1:c.3614A>G	NP_001369715.1:p.Asn1205Ser
NM_001382787.1:c.3608A>G	NP_001369716.1:p.Asn1203Ser
NM_001382788.1:c.3563A>G	NP_001369717.1:p.Asn1188Ser
NM_001382789.1:c.3554A>G	NP_001369718.1:p.Asn1185Ser
NM_001382790.1:c.3530A>G	NP_001369719.1:p.Asn1177Ser
NM_001382791.1:c.3524A>G	NP_001369720.1:p.Asn1175Ser
NM_001382792.1:c.3497A>G	NP_001369721.1:p.Asn1166Ser
NM_001382793.1:c.3491A>G	NP_001369722.1:p.Asn1164Ser
NM_001382794.1:c.3491A>G	NP_001369723.1:p.Asn1164Ser
NM_001382795.1:c.3485A>G	NP_001369724.1:p.Asn1162Ser
NM_001382796.1:c.3446A>G	NP_001369725.1:p.Asn1149Ser
NM_001382797.1:c.3434A>G	NP_001369726.1:p.Asn1145Ser
NM_001382798.1:c.3377A>G	NP_001369727.1:p.Asn1126Ser
NM_001382799.1:c.3353A>G	NP_001369728.1:p.Asn1118Ser
NM_001382800.1:c.3347A>G	NP_001369729.1:p.Asn1116Ser
NM_001382801.1:c.3329A>G	NP_001369730.1:p.Asn1110Ser
NM_001382802.1:c.3275A>G	NP_001369731.1:p.Asn1092Ser
NM_001382803.1:c.*112A>G	NP_001369732.1:n.*112A>G
NM_001382804.1:c.2705A>G	NP_001369733.1:p.Asn902Ser
NM_001382805.1:c.2582A>G	NP_001369734.1:p.Asn861Ser
NM_001382806.1:c.2495A>G	NP_001369735.1:p.Asn832Ser
NM_004448.4:c.3533A>G MANE Select	NP_004439.2:p.Asn1178Ser
NR_110535.2:n.3771A>G