Canonical Allele Identifier: CA399312778

Gene: ERBB2

Linked Data

• dbSNP Id: rs1166464063
• gnomAD v3: 17-39727535-A-G
• gnomAD v4: 17-39727535-A-G
• MyVariant Identifiers: chr17:g.37883788A>G (hg19) ; chr17:g.39727535A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727535A>G , CM000679.2:g.39727535A>G	GRCh38
NC_000017.10:g.37883788A>G , CM000679.1:g.37883788A>G	GRCh37
NC_000017.9:g.35137314A>G	NCBI36
NG_007503.1:g.44396A>G , LRG_724:g.44396A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3400A>G MANE Select	ENSP00000269571.4:p.Ser1134Gly
ENST00000269571.9:c.3400A>G	ENSP00000269571.4:p.Ser1134Gly
ENST00000406381.6:c.3310A>G	ENSP00000385185.2:p.Ser1104Gly
ENST00000445658.6:c.2572A>G	ENSP00000404047.2:p.Ser858Gly
ENST00000541774.5:c.3355A>G	ENSP00000446466.1:p.Ser1119Gly
ENST00000578373.5:c.*3190A>G	ENSP00000463427.1:n.*3190A>G
ENST00000584450.5:c.3160-154A>G	ENSP00000463714.1:n.3160-154A>G
ENST00000584601.5:c.3310A>G	ENSP00000462438.1:p.Ser1104Gly
NM_001005862.2:c.3310A>G , LRG_724t1:c.3310A>G	NP_001005862.1:p.Ser1104Gly
NM_001289936.1:c.3355A>G , LRG_724t4:c.3355A>G	NP_001276865.1:p.Ser1119Gly
NM_001289937.1:c.3160-154A>G	NP_001276866.1:n.3160-154A>G
NM_004448.3:c.3400A>G , LRG_724t2:c.3400A>G	NP_004439.2:p.Ser1134Gly
NR_110535.1:n.3724A>G
XM_024450641.1:c.3538A>G	XP_024306409.1:p.Ser1180Gly
XM_024450642.1:c.3493A>G	XP_024306410.1:p.Ser1165Gly
XM_024450643.1:c.3448A>G	XP_024306411.1:p.Ser1150Gly
NM_001005862.3:c.3310A>G	NP_001005862.1:p.Ser1104Gly
NM_001289936.2:c.3355A>G	NP_001276865.1:p.Ser1119Gly
NM_001289937.2:c.3160-154A>G	NP_001276866.1:n.3160-154A>G
NM_001382782.1:c.3310A>G	NP_001369711.1:p.Ser1104Gly
NM_001382783.1:c.3310A>G	NP_001369712.1:p.Ser1104Gly
NM_001382784.1:c.3517A>G	NP_001369713.1:p.Ser1173Gly
NM_001382785.1:c.3502A>G	NP_001369714.1:p.Ser1168Gly
NM_001382786.1:c.3481A>G	NP_001369715.1:p.Ser1161Gly
NM_001382787.1:c.3475A>G	NP_001369716.1:p.Ser1159Gly
NM_001382788.1:c.3430A>G	NP_001369717.1:p.Ser1144Gly
NM_001382789.1:c.3421A>G	NP_001369718.1:p.Ser1141Gly
NM_001382790.1:c.3397A>G	NP_001369719.1:p.Ser1133Gly
NM_001382791.1:c.3391A>G	NP_001369720.1:p.Ser1131Gly
NM_001382792.1:c.3364A>G	NP_001369721.1:p.Ser1122Gly
NM_001382793.1:c.3358A>G	NP_001369722.1:p.Ser1120Gly
NM_001382794.1:c.3358A>G	NP_001369723.1:p.Ser1120Gly
NM_001382795.1:c.3352A>G	NP_001369724.1:p.Ser1118Gly
NM_001382796.1:c.3313A>G	NP_001369725.1:p.Ser1105Gly
NM_001382797.1:c.3301A>G	NP_001369726.1:p.Ser1101Gly
NM_001382798.1:c.3244A>G	NP_001369727.1:p.Ser1082Gly
NM_001382799.1:c.3220A>G	NP_001369728.1:p.Ser1074Gly
NM_001382800.1:c.3214A>G	NP_001369729.1:p.Ser1072Gly
NM_001382801.1:c.3196A>G	NP_001369730.1:p.Ser1066Gly
NM_001382802.1:c.3142A>G	NP_001369731.1:p.Ser1048Gly
NM_001382803.1:c.3118-154A>G	NP_001369732.1:n.3118-154A>G
NM_001382804.1:c.2572A>G	NP_001369733.1:p.Ser858Gly
NM_001382805.1:c.2449A>G	NP_001369734.1:p.Ser817Gly
NM_001382806.1:c.2362A>G	NP_001369735.1:p.Ser788Gly
NM_004448.4:c.3400A>G MANE Select	NP_004439.2:p.Ser1134Gly
NR_110535.2:n.3638A>G