Canonical Allele Identifier: CA399314147

Gene: ERBB2

Linked Data

• dbSNP Id: rs1206558778
• gnomAD v2: 17-37884164-C-G
• gnomAD v4: 17-39727911-C-G
• MyVariant Identifiers: chr17:g.37884164C>G (hg19) ; chr17:g.39727911C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727911C>G , CM000679.2:g.39727911C>G	GRCh38
NC_000017.10:g.37884164C>G , CM000679.1:g.37884164C>G	GRCh37
NC_000017.9:g.35137690C>G	NCBI36
NG_007503.1:g.44772C>G , LRG_724:g.44772C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3635C>G MANE Select	ENSP00000269571.4:p.Ala1212Gly
ENST00000269571.9:c.3635C>G	ENSP00000269571.4:p.Ala1212Gly
ENST00000406381.6:c.3545C>G	ENSP00000385185.2:p.Ala1182Gly
ENST00000445658.6:c.2807C>G	ENSP00000404047.2:p.Ala936Gly
ENST00000541774.5:c.3590C>G	ENSP00000446466.1:p.Ala1197Gly
ENST00000578373.5:c.*3425C>G	ENSP00000463427.1:n.*3425C>G
ENST00000584450.5:c.*214C>G	ENSP00000463714.1:n.*214C>G
ENST00000584601.5:c.3545C>G	ENSP00000462438.1:p.Ala1182Gly
NM_001005862.2:c.3545C>G , LRG_724t1:c.3545C>G	NP_001005862.1:p.Ala1182Gly
NM_001289936.1:c.3590C>G , LRG_724t4:c.3590C>G	NP_001276865.1:p.Ala1197Gly
NM_001289937.1:c.*214C>G	NP_001276866.1:n.*214C>G
NM_004448.3:c.3635C>G , LRG_724t2:c.3635C>G	NP_004439.2:p.Ala1212Gly
NR_110535.1:n.3959C>G
XM_024450641.1:c.3773C>G	XP_024306409.1:p.Ala1258Gly
XM_024450642.1:c.3728C>G	XP_024306410.1:p.Ala1243Gly
XM_024450643.1:c.3683C>G	XP_024306411.1:p.Ala1228Gly
NM_001005862.3:c.3545C>G	NP_001005862.1:p.Ala1182Gly
NM_001289936.2:c.3590C>G	NP_001276865.1:p.Ala1197Gly
NM_001289937.2:c.*214C>G	NP_001276866.1:n.*214C>G
NM_001382782.1:c.3545C>G	NP_001369711.1:p.Ala1182Gly
NM_001382783.1:c.3545C>G	NP_001369712.1:p.Ala1182Gly
NM_001382784.1:c.3752C>G	NP_001369713.1:p.Ala1251Gly
NM_001382785.1:c.3737C>G	NP_001369714.1:p.Ala1246Gly
NM_001382786.1:c.3716C>G	NP_001369715.1:p.Ala1239Gly
NM_001382787.1:c.3710C>G	NP_001369716.1:p.Ala1237Gly
NM_001382788.1:c.3665C>G	NP_001369717.1:p.Ala1222Gly
NM_001382789.1:c.3656C>G	NP_001369718.1:p.Ala1219Gly
NM_001382790.1:c.3632C>G	NP_001369719.1:p.Ala1211Gly
NM_001382791.1:c.3626C>G	NP_001369720.1:p.Ala1209Gly
NM_001382792.1:c.3599C>G	NP_001369721.1:p.Ala1200Gly
NM_001382793.1:c.3593C>G	NP_001369722.1:p.Ala1198Gly
NM_001382794.1:c.3593C>G	NP_001369723.1:p.Ala1198Gly
NM_001382795.1:c.3587C>G	NP_001369724.1:p.Ala1196Gly
NM_001382796.1:c.3548C>G	NP_001369725.1:p.Ala1183Gly
NM_001382797.1:c.3536C>G	NP_001369726.1:p.Ala1179Gly
NM_001382798.1:c.3479C>G	NP_001369727.1:p.Ala1160Gly
NM_001382799.1:c.3455C>G	NP_001369728.1:p.Ala1152Gly
NM_001382800.1:c.3449C>G	NP_001369729.1:p.Ala1150Gly
NM_001382801.1:c.3431C>G	NP_001369730.1:p.Ala1144Gly
NM_001382802.1:c.3377C>G	NP_001369731.1:p.Ala1126Gly
NM_001382803.1:c.*214C>G	NP_001369732.1:n.*214C>G
NM_001382804.1:c.2807C>G	NP_001369733.1:p.Ala936Gly
NM_001382805.1:c.2684C>G	NP_001369734.1:p.Ala895Gly
NM_001382806.1:c.2597C>G	NP_001369735.1:p.Ala866Gly
NM_004448.4:c.3635C>G MANE Select	NP_004439.2:p.Ala1212Gly
NR_110535.2:n.3873C>G