Canonical Allele Identifier: CA399312586

Gene: ERBB2

Linked Data

• dbSNP Id: rs2143253040
• COSMIC: COSM472699
• MyVariant Identifiers: chr17:g.37883729A>G (hg19) ; chr17:g.39727476A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727476A>G , CM000679.2:g.39727476A>G	GRCh38
NC_000017.10:g.37883729A>G , CM000679.1:g.37883729A>G	GRCh37
NC_000017.9:g.35137255A>G	NCBI36
NG_007503.1:g.44337A>G , LRG_724:g.44337A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3341A>G MANE Select	ENSP00000269571.4:p.Glu1114Gly
ENST00000269571.9:c.3341A>G	ENSP00000269571.4:p.Glu1114Gly
ENST00000406381.6:c.3251A>G	ENSP00000385185.2:p.Glu1084Gly
ENST00000445658.6:c.2513A>G	ENSP00000404047.2:p.Glu838Gly
ENST00000541774.5:c.3296A>G	ENSP00000446466.1:p.Glu1099Gly
ENST00000578373.5:c.*3131A>G	ENSP00000463427.1:n.*3131A>G
ENST00000584450.5:c.3160-213A>G	ENSP00000463714.1:n.3160-213A>G
ENST00000584601.5:c.3251A>G	ENSP00000462438.1:p.Glu1084Gly
NM_001005862.2:c.3251A>G , LRG_724t1:c.3251A>G	NP_001005862.1:p.Glu1084Gly
NM_001289936.1:c.3296A>G , LRG_724t4:c.3296A>G	NP_001276865.1:p.Glu1099Gly
NM_001289937.1:c.3160-213A>G	NP_001276866.1:n.3160-213A>G
NM_004448.3:c.3341A>G , LRG_724t2:c.3341A>G	NP_004439.2:p.Glu1114Gly
NR_110535.1:n.3665A>G
XM_024450641.1:c.3479A>G	XP_024306409.1:p.Glu1160Gly
XM_024450642.1:c.3434A>G	XP_024306410.1:p.Glu1145Gly
XM_024450643.1:c.3389A>G	XP_024306411.1:p.Glu1130Gly
NM_001005862.3:c.3251A>G	NP_001005862.1:p.Glu1084Gly
NM_001289936.2:c.3296A>G	NP_001276865.1:p.Glu1099Gly
NM_001289937.2:c.3160-213A>G	NP_001276866.1:n.3160-213A>G
NM_001382782.1:c.3251A>G	NP_001369711.1:p.Glu1084Gly
NM_001382783.1:c.3251A>G	NP_001369712.1:p.Glu1084Gly
NM_001382784.1:c.3458A>G	NP_001369713.1:p.Glu1153Gly
NM_001382785.1:c.3443A>G	NP_001369714.1:p.Glu1148Gly
NM_001382786.1:c.3422A>G	NP_001369715.1:p.Glu1141Gly
NM_001382787.1:c.3416A>G	NP_001369716.1:p.Glu1139Gly
NM_001382788.1:c.3371A>G	NP_001369717.1:p.Glu1124Gly
NM_001382789.1:c.3362A>G	NP_001369718.1:p.Glu1121Gly
NM_001382790.1:c.3338A>G	NP_001369719.1:p.Glu1113Gly
NM_001382791.1:c.3332A>G	NP_001369720.1:p.Glu1111Gly
NM_001382792.1:c.3305A>G	NP_001369721.1:p.Glu1102Gly
NM_001382793.1:c.3299A>G	NP_001369722.1:p.Glu1100Gly
NM_001382794.1:c.3299A>G	NP_001369723.1:p.Glu1100Gly
NM_001382795.1:c.3293A>G	NP_001369724.1:p.Glu1098Gly
NM_001382796.1:c.3254A>G	NP_001369725.1:p.Glu1085Gly
NM_001382797.1:c.3242A>G	NP_001369726.1:p.Glu1081Gly
NM_001382798.1:c.3185A>G	NP_001369727.1:p.Glu1062Gly
NM_001382799.1:c.3161A>G	NP_001369728.1:p.Glu1054Gly
NM_001382800.1:c.3155A>G	NP_001369729.1:p.Glu1052Gly
NM_001382801.1:c.3137A>G	NP_001369730.1:p.Glu1046Gly
NM_001382802.1:c.3083A>G	NP_001369731.1:p.Glu1028Gly
NM_001382803.1:c.3118-213A>G	NP_001369732.1:n.3118-213A>G
NM_001382804.1:c.2513A>G	NP_001369733.1:p.Glu838Gly
NM_001382805.1:c.2390A>G	NP_001369734.1:p.Glu797Gly
NM_001382806.1:c.2303A>G	NP_001369735.1:p.Glu768Gly
NM_004448.4:c.3341A>G MANE Select	NP_004439.2:p.Glu1114Gly
NR_110535.2:n.3579A>G