Canonical Allele Identifier: CA8534525

Gene: ERBB2

Linked Data

• ClinVar Variation Id: 1425837
• ClinVar RCV Id: RCV001926948
• dbSNP Id: rs764220279
• ExAC: 17:37883725 A / G
• gnomAD v2: 17-37883725-A-G
• gnomAD v4: 17-39727472-A-G
• MyVariant Identifiers: chr17:g.37883725A>G (hg19) ; chr17:g.39727472A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727472A>G , CM000679.2:g.39727472A>G	GRCh38
NC_000017.10:g.37883725A>G , CM000679.1:g.37883725A>G	GRCh37
NC_000017.9:g.35137251A>G	NCBI36
NG_007503.1:g.44333A>G , LRG_724:g.44333A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3337A>G MANE Select	ENSP00000269571.4:p.Ser1113Gly
ENST00000269571.9:c.3337A>G	ENSP00000269571.4:p.Ser1113Gly
ENST00000406381.6:c.3247A>G	ENSP00000385185.2:p.Ser1083Gly
ENST00000445658.6:c.2509A>G	ENSP00000404047.2:p.Ser837Gly
ENST00000541774.5:c.3292A>G	ENSP00000446466.1:p.Ser1098Gly
ENST00000578373.5:c.*3127A>G	ENSP00000463427.1:n.*3127A>G
ENST00000584450.5:c.3160-217A>G	ENSP00000463714.1:n.3160-217A>G
ENST00000584601.5:c.3247A>G	ENSP00000462438.1:p.Ser1083Gly
NM_001005862.2:c.3247A>G , LRG_724t1:c.3247A>G	NP_001005862.1:p.Ser1083Gly
NM_001289936.1:c.3292A>G , LRG_724t4:c.3292A>G	NP_001276865.1:p.Ser1098Gly
NM_001289937.1:c.3160-217A>G	NP_001276866.1:n.3160-217A>G
NM_004448.3:c.3337A>G , LRG_724t2:c.3337A>G	NP_004439.2:p.Ser1113Gly
NR_110535.1:n.3661A>G
XM_024450641.1:c.3475A>G	XP_024306409.1:p.Ser1159Gly
XM_024450642.1:c.3430A>G	XP_024306410.1:p.Ser1144Gly
XM_024450643.1:c.3385A>G	XP_024306411.1:p.Ser1129Gly
NM_001005862.3:c.3247A>G	NP_001005862.1:p.Ser1083Gly
NM_001289936.2:c.3292A>G	NP_001276865.1:p.Ser1098Gly
NM_001289937.2:c.3160-217A>G	NP_001276866.1:n.3160-217A>G
NM_001382782.1:c.3247A>G	NP_001369711.1:p.Ser1083Gly
NM_001382783.1:c.3247A>G	NP_001369712.1:p.Ser1083Gly
NM_001382784.1:c.3454A>G	NP_001369713.1:p.Ser1152Gly
NM_001382785.1:c.3439A>G	NP_001369714.1:p.Ser1147Gly
NM_001382786.1:c.3418A>G	NP_001369715.1:p.Ser1140Gly
NM_001382787.1:c.3412A>G	NP_001369716.1:p.Ser1138Gly
NM_001382788.1:c.3367A>G	NP_001369717.1:p.Ser1123Gly
NM_001382789.1:c.3358A>G	NP_001369718.1:p.Ser1120Gly
NM_001382790.1:c.3334A>G	NP_001369719.1:p.Ser1112Gly
NM_001382791.1:c.3328A>G	NP_001369720.1:p.Ser1110Gly
NM_001382792.1:c.3301A>G	NP_001369721.1:p.Ser1101Gly
NM_001382793.1:c.3295A>G	NP_001369722.1:p.Ser1099Gly
NM_001382794.1:c.3295A>G	NP_001369723.1:p.Ser1099Gly
NM_001382795.1:c.3289A>G	NP_001369724.1:p.Ser1097Gly
NM_001382796.1:c.3250A>G	NP_001369725.1:p.Ser1084Gly
NM_001382797.1:c.3238A>G	NP_001369726.1:p.Ser1080Gly
NM_001382798.1:c.3181A>G	NP_001369727.1:p.Ser1061Gly
NM_001382799.1:c.3157A>G	NP_001369728.1:p.Ser1053Gly
NM_001382800.1:c.3151A>G	NP_001369729.1:p.Ser1051Gly
NM_001382801.1:c.3133A>G	NP_001369730.1:p.Ser1045Gly
NM_001382802.1:c.3079A>G	NP_001369731.1:p.Ser1027Gly
NM_001382803.1:c.3118-217A>G	NP_001369732.1:n.3118-217A>G
NM_001382804.1:c.2509A>G	NP_001369733.1:p.Ser837Gly
NM_001382805.1:c.2386A>G	NP_001369734.1:p.Ser796Gly
NM_001382806.1:c.2299A>G	NP_001369735.1:p.Ser767Gly
NM_004448.4:c.3337A>G MANE Select	NP_004439.2:p.Ser1113Gly
NR_110535.2:n.3575A>G