Canonical Allele Identifier: CA399314511

Gene: ERBB2

Linked Data

• dbSNP Id: rs890921240
• gnomAD v4: 17-39727956-C-A
• MyVariant Identifiers: chr17:g.37884209C>A (hg19) ; chr17:g.39727956C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727956C>A , CM000679.2:g.39727956C>A	GRCh38
NC_000017.10:g.37884209C>A , CM000679.1:g.37884209C>A	GRCh37
NC_000017.9:g.35137735C>A	NCBI36
NG_007503.1:g.44817C>A , LRG_724:g.44817C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3680C>A MANE Select	ENSP00000269571.4:p.Pro1227Gln
ENST00000269571.9:c.3680C>A	ENSP00000269571.4:p.Pro1227Gln
ENST00000406381.6:c.3590C>A	ENSP00000385185.2:p.Pro1197Gln
ENST00000445658.6:c.2852C>A	ENSP00000404047.2:p.Pro951Gln
ENST00000541774.5:c.3635C>A	ENSP00000446466.1:p.Pro1212Gln
ENST00000578373.5:c.*3470C>A	ENSP00000463427.1:n.*3470C>A
ENST00000584450.5:c.*259C>A	ENSP00000463714.1:n.*259C>A
ENST00000584601.5:c.3590C>A	ENSP00000462438.1:p.Pro1197Gln
NM_001005862.2:c.3590C>A , LRG_724t1:c.3590C>A	NP_001005862.1:p.Pro1197Gln
NM_001289936.1:c.3635C>A , LRG_724t4:c.3635C>A	NP_001276865.1:p.Pro1212Gln
NM_001289937.1:c.*259C>A	NP_001276866.1:n.*259C>A
NM_004448.3:c.3680C>A , LRG_724t2:c.3680C>A	NP_004439.2:p.Pro1227Gln
NR_110535.1:n.4004C>A
XM_024450641.1:c.3818C>A	XP_024306409.1:p.Pro1273Gln
XM_024450642.1:c.3773C>A	XP_024306410.1:p.Pro1258Gln
XM_024450643.1:c.3728C>A	XP_024306411.1:p.Pro1243Gln
NM_001005862.3:c.3590C>A	NP_001005862.1:p.Pro1197Gln
NM_001289936.2:c.3635C>A	NP_001276865.1:p.Pro1212Gln
NM_001289937.2:c.*259C>A	NP_001276866.1:n.*259C>A
NM_001382782.1:c.3590C>A	NP_001369711.1:p.Pro1197Gln
NM_001382783.1:c.3590C>A	NP_001369712.1:p.Pro1197Gln
NM_001382784.1:c.3797C>A	NP_001369713.1:p.Pro1266Gln
NM_001382785.1:c.3782C>A	NP_001369714.1:p.Pro1261Gln
NM_001382786.1:c.3761C>A	NP_001369715.1:p.Pro1254Gln
NM_001382787.1:c.3755C>A	NP_001369716.1:p.Pro1252Gln
NM_001382788.1:c.3710C>A	NP_001369717.1:p.Pro1237Gln
NM_001382789.1:c.3701C>A	NP_001369718.1:p.Pro1234Gln
NM_001382790.1:c.3677C>A	NP_001369719.1:p.Pro1226Gln
NM_001382791.1:c.3671C>A	NP_001369720.1:p.Pro1224Gln
NM_001382792.1:c.3644C>A	NP_001369721.1:p.Pro1215Gln
NM_001382793.1:c.3638C>A	NP_001369722.1:p.Pro1213Gln
NM_001382794.1:c.3638C>A	NP_001369723.1:p.Pro1213Gln
NM_001382795.1:c.3632C>A	NP_001369724.1:p.Pro1211Gln
NM_001382796.1:c.3593C>A	NP_001369725.1:p.Pro1198Gln
NM_001382797.1:c.3581C>A	NP_001369726.1:p.Pro1194Gln
NM_001382798.1:c.3524C>A	NP_001369727.1:p.Pro1175Gln
NM_001382799.1:c.3500C>A	NP_001369728.1:p.Pro1167Gln
NM_001382800.1:c.3494C>A	NP_001369729.1:p.Pro1165Gln
NM_001382801.1:c.3476C>A	NP_001369730.1:p.Pro1159Gln
NM_001382802.1:c.3422C>A	NP_001369731.1:p.Pro1141Gln
NM_001382803.1:c.*259C>A	NP_001369732.1:n.*259C>A
NM_001382804.1:c.2852C>A	NP_001369733.1:p.Pro951Gln
NM_001382805.1:c.2729C>A	NP_001369734.1:p.Pro910Gln
NM_001382806.1:c.2642C>A	NP_001369735.1:p.Pro881Gln
NM_004448.4:c.3680C>A MANE Select	NP_004439.2:p.Pro1227Gln
NR_110535.2:n.3918C>A