Canonical Allele Identifier: CA399313848

Gene: ERBB2

Linked Data

• dbSNP Id: rs779469693
• gnomAD v4: 17-39727871-C-G
• MyVariant Identifiers: chr17:g.37884124C>G (hg19) ; chr17:g.39727871C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727871C>G , CM000679.2:g.39727871C>G	GRCh38
NC_000017.10:g.37884124C>G , CM000679.1:g.37884124C>G	GRCh37
NC_000017.9:g.35137650C>G	NCBI36
NG_007503.1:g.44732C>G , LRG_724:g.44732C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3595C>G MANE Select	ENSP00000269571.4:p.Pro1199Ala
ENST00000269571.9:c.3595C>G	ENSP00000269571.4:p.Pro1199Ala
ENST00000406381.6:c.3505C>G	ENSP00000385185.2:p.Pro1169Ala
ENST00000445658.6:c.2767C>G	ENSP00000404047.2:p.Pro923Ala
ENST00000541774.5:c.3550C>G	ENSP00000446466.1:p.Pro1184Ala
ENST00000578373.5:c.*3385C>G	ENSP00000463427.1:n.*3385C>G
ENST00000584450.5:c.*174C>G	ENSP00000463714.1:n.*174C>G
ENST00000584601.5:c.3505C>G	ENSP00000462438.1:p.Pro1169Ala
NM_001005862.2:c.3505C>G , LRG_724t1:c.3505C>G	NP_001005862.1:p.Pro1169Ala
NM_001289936.1:c.3550C>G , LRG_724t4:c.3550C>G	NP_001276865.1:p.Pro1184Ala
NM_001289937.1:c.*174C>G	NP_001276866.1:n.*174C>G
NM_004448.3:c.3595C>G , LRG_724t2:c.3595C>G	NP_004439.2:p.Pro1199Ala
NR_110535.1:n.3919C>G
XM_024450641.1:c.3733C>G	XP_024306409.1:p.Pro1245Ala
XM_024450642.1:c.3688C>G	XP_024306410.1:p.Pro1230Ala
XM_024450643.1:c.3643C>G	XP_024306411.1:p.Pro1215Ala
NM_001005862.3:c.3505C>G	NP_001005862.1:p.Pro1169Ala
NM_001289936.2:c.3550C>G	NP_001276865.1:p.Pro1184Ala
NM_001289937.2:c.*174C>G	NP_001276866.1:n.*174C>G
NM_001382782.1:c.3505C>G	NP_001369711.1:p.Pro1169Ala
NM_001382783.1:c.3505C>G	NP_001369712.1:p.Pro1169Ala
NM_001382784.1:c.3712C>G	NP_001369713.1:p.Pro1238Ala
NM_001382785.1:c.3697C>G	NP_001369714.1:p.Pro1233Ala
NM_001382786.1:c.3676C>G	NP_001369715.1:p.Pro1226Ala
NM_001382787.1:c.3670C>G	NP_001369716.1:p.Pro1224Ala
NM_001382788.1:c.3625C>G	NP_001369717.1:p.Pro1209Ala
NM_001382789.1:c.3616C>G	NP_001369718.1:p.Pro1206Ala
NM_001382790.1:c.3592C>G	NP_001369719.1:p.Pro1198Ala
NM_001382791.1:c.3586C>G	NP_001369720.1:p.Pro1196Ala
NM_001382792.1:c.3559C>G	NP_001369721.1:p.Pro1187Ala
NM_001382793.1:c.3553C>G	NP_001369722.1:p.Pro1185Ala
NM_001382794.1:c.3553C>G	NP_001369723.1:p.Pro1185Ala
NM_001382795.1:c.3547C>G	NP_001369724.1:p.Pro1183Ala
NM_001382796.1:c.3508C>G	NP_001369725.1:p.Pro1170Ala
NM_001382797.1:c.3496C>G	NP_001369726.1:p.Pro1166Ala
NM_001382798.1:c.3439C>G	NP_001369727.1:p.Pro1147Ala
NM_001382799.1:c.3415C>G	NP_001369728.1:p.Pro1139Ala
NM_001382800.1:c.3409C>G	NP_001369729.1:p.Pro1137Ala
NM_001382801.1:c.3391C>G	NP_001369730.1:p.Pro1131Ala
NM_001382802.1:c.3337C>G	NP_001369731.1:p.Pro1113Ala
NM_001382803.1:c.*174C>G	NP_001369732.1:n.*174C>G
NM_001382804.1:c.2767C>G	NP_001369733.1:p.Pro923Ala
NM_001382805.1:c.2644C>G	NP_001369734.1:p.Pro882Ala
NM_001382806.1:c.2557C>G	NP_001369735.1:p.Pro853Ala
NM_004448.4:c.3595C>G MANE Select	NP_004439.2:p.Pro1199Ala
NR_110535.2:n.3833C>G