Canonical Allele Identifier: CA399310250

Gene: ERBB2

Linked Data

• dbSNP Id: rs754310116
• gnomAD v4: 17-39727337-G-A
• MyVariant Identifiers: chr17:g.37883590G>A (hg19) ; chr17:g.39727337G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727337G>A , CM000679.2:g.39727337G>A	GRCh38
NC_000017.10:g.37883590G>A , CM000679.1:g.37883590G>A	GRCh37
NC_000017.9:g.35137116G>A	NCBI36
NG_007503.1:g.44198G>A , LRG_724:g.44198G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3202G>A MANE Select	ENSP00000269571.4:p.Glu1068Lys
ENST00000269571.9:c.3202G>A	ENSP00000269571.4:p.Glu1068Lys
ENST00000406381.6:c.3112G>A	ENSP00000385185.2:p.Glu1038Lys
ENST00000445658.6:c.2374G>A	ENSP00000404047.2:p.Glu792Lys
ENST00000541774.5:c.3157G>A	ENSP00000446466.1:p.Glu1053Lys
ENST00000578373.5:c.*2992G>A	ENSP00000463427.1:n.*2992G>A
ENST00000584450.5:c.3159+334G>A	ENSP00000463714.1:n.3159+334G>A
ENST00000584601.5:c.3112G>A	ENSP00000462438.1:p.Glu1038Lys
NM_001005862.2:c.3112G>A , LRG_724t1:c.3112G>A	NP_001005862.1:p.Glu1038Lys
NM_001289936.1:c.3157G>A , LRG_724t4:c.3157G>A	NP_001276865.1:p.Glu1053Lys
NM_001289937.1:c.3159+334G>A	NP_001276866.1:n.3159+334G>A
NM_004448.3:c.3202G>A , LRG_724t2:c.3202G>A	NP_004439.2:p.Glu1068Lys
NR_110535.1:n.3526G>A
XM_024450641.1:c.3340G>A	XP_024306409.1:p.Glu1114Lys
XM_024450642.1:c.3295G>A	XP_024306410.1:p.Glu1099Lys
XM_024450643.1:c.3250G>A	XP_024306411.1:p.Glu1084Lys
NM_001005862.3:c.3112G>A	NP_001005862.1:p.Glu1038Lys
NM_001289936.2:c.3157G>A	NP_001276865.1:p.Glu1053Lys
NM_001289937.2:c.3159+334G>A	NP_001276866.1:n.3159+334G>A
NM_001382782.1:c.3112G>A	NP_001369711.1:p.Glu1038Lys
NM_001382783.1:c.3112G>A	NP_001369712.1:p.Glu1038Lys
NM_001382784.1:c.3319G>A	NP_001369713.1:p.Glu1107Lys
NM_001382785.1:c.3304G>A	NP_001369714.1:p.Glu1102Lys
NM_001382786.1:c.3283G>A	NP_001369715.1:p.Glu1095Lys
NM_001382787.1:c.3277G>A	NP_001369716.1:p.Glu1093Lys
NM_001382788.1:c.3232G>A	NP_001369717.1:p.Glu1078Lys
NM_001382789.1:c.3223G>A	NP_001369718.1:p.Glu1075Lys
NM_001382790.1:c.3199G>A	NP_001369719.1:p.Glu1067Lys
NM_001382791.1:c.3193G>A	NP_001369720.1:p.Glu1065Lys
NM_001382792.1:c.3166G>A	NP_001369721.1:p.Glu1056Lys
NM_001382793.1:c.3160G>A	NP_001369722.1:p.Glu1054Lys
NM_001382794.1:c.3160G>A	NP_001369723.1:p.Glu1054Lys
NM_001382795.1:c.3154G>A	NP_001369724.1:p.Glu1052Lys
NM_001382796.1:c.3115G>A	NP_001369725.1:p.Glu1039Lys
NM_001382797.1:c.3103G>A	NP_001369726.1:p.Glu1035Lys
NM_001382798.1:c.3046G>A	NP_001369727.1:p.Glu1016Lys
NM_001382799.1:c.3022G>A	NP_001369728.1:p.Glu1008Lys
NM_001382800.1:c.3016G>A	NP_001369729.1:p.Glu1006Lys
NM_001382801.1:c.2998G>A	NP_001369730.1:p.Glu1000Lys
NM_001382802.1:c.2944G>A	NP_001369731.1:p.Glu982Lys
NM_001382803.1:c.3117+334G>A	NP_001369732.1:n.3117+334G>A
NM_001382804.1:c.2374G>A	NP_001369733.1:p.Glu792Lys
NM_001382805.1:c.2251G>A	NP_001369734.1:p.Glu751Lys
NM_001382806.1:c.2164G>A	NP_001369735.1:p.Glu722Lys
NM_004448.4:c.3202G>A MANE Select	NP_004439.2:p.Glu1068Lys
NR_110535.2:n.3440G>A