Canonical Allele Identifier: CA399313023

Gene: ERBB2

Linked Data

• dbSNP Id: rs2143293146
• gnomAD v4: 17-39727755-C-A
• MyVariant Identifiers: chr17:g.37884008C>A (hg19) ; chr17:g.39727755C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727755C>A , CM000679.2:g.39727755C>A	GRCh38
NC_000017.10:g.37884008C>A , CM000679.1:g.37884008C>A	GRCh37
NC_000017.9:g.35137534C>A	NCBI36
NG_007503.1:g.44616C>A , LRG_724:g.44616C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3479C>A MANE Select	ENSP00000269571.4:p.Ala1160Asp
ENST00000269571.9:c.3479C>A	ENSP00000269571.4:p.Ala1160Asp
ENST00000406381.6:c.3389C>A	ENSP00000385185.2:p.Ala1130Asp
ENST00000445658.6:c.2651C>A	ENSP00000404047.2:p.Ala884Asp
ENST00000541774.5:c.3434C>A	ENSP00000446466.1:p.Ala1145Asp
ENST00000578373.5:c.*3269C>A	ENSP00000463427.1:n.*3269C>A
ENST00000584450.5:c.*58C>A	ENSP00000463714.1:n.*58C>A
ENST00000584601.5:c.3389C>A	ENSP00000462438.1:p.Ala1130Asp
NM_001005862.2:c.3389C>A , LRG_724t1:c.3389C>A	NP_001005862.1:p.Ala1130Asp
NM_001289936.1:c.3434C>A , LRG_724t4:c.3434C>A	NP_001276865.1:p.Ala1145Asp
NM_001289937.1:c.*58C>A	NP_001276866.1:n.*58C>A
NM_004448.3:c.3479C>A , LRG_724t2:c.3479C>A	NP_004439.2:p.Ala1160Asp
NR_110535.1:n.3803C>A
XM_024450641.1:c.3617C>A	XP_024306409.1:p.Ala1206Asp
XM_024450642.1:c.3572C>A	XP_024306410.1:p.Ala1191Asp
XM_024450643.1:c.3527C>A	XP_024306411.1:p.Ala1176Asp
NM_001005862.3:c.3389C>A	NP_001005862.1:p.Ala1130Asp
NM_001289936.2:c.3434C>A	NP_001276865.1:p.Ala1145Asp
NM_001289937.2:c.*58C>A	NP_001276866.1:n.*58C>A
NM_001382782.1:c.3389C>A	NP_001369711.1:p.Ala1130Asp
NM_001382783.1:c.3389C>A	NP_001369712.1:p.Ala1130Asp
NM_001382784.1:c.3596C>A	NP_001369713.1:p.Ala1199Asp
NM_001382785.1:c.3581C>A	NP_001369714.1:p.Ala1194Asp
NM_001382786.1:c.3560C>A	NP_001369715.1:p.Ala1187Asp
NM_001382787.1:c.3554C>A	NP_001369716.1:p.Ala1185Asp
NM_001382788.1:c.3509C>A	NP_001369717.1:p.Ala1170Asp
NM_001382789.1:c.3500C>A	NP_001369718.1:p.Ala1167Asp
NM_001382790.1:c.3476C>A	NP_001369719.1:p.Ala1159Asp
NM_001382791.1:c.3470C>A	NP_001369720.1:p.Ala1157Asp
NM_001382792.1:c.3443C>A	NP_001369721.1:p.Ala1148Asp
NM_001382793.1:c.3437C>A	NP_001369722.1:p.Ala1146Asp
NM_001382794.1:c.3437C>A	NP_001369723.1:p.Ala1146Asp
NM_001382795.1:c.3431C>A	NP_001369724.1:p.Ala1144Asp
NM_001382796.1:c.3392C>A	NP_001369725.1:p.Ala1131Asp
NM_001382797.1:c.3380C>A	NP_001369726.1:p.Ala1127Asp
NM_001382798.1:c.3323C>A	NP_001369727.1:p.Ala1108Asp
NM_001382799.1:c.3299C>A	NP_001369728.1:p.Ala1100Asp
NM_001382800.1:c.3293C>A	NP_001369729.1:p.Ala1098Asp
NM_001382801.1:c.3275C>A	NP_001369730.1:p.Ala1092Asp
NM_001382802.1:c.3221C>A	NP_001369731.1:p.Ala1074Asp
NM_001382803.1:c.*58C>A	NP_001369732.1:n.*58C>A
NM_001382804.1:c.2651C>A	NP_001369733.1:p.Ala884Asp
NM_001382805.1:c.2528C>A	NP_001369734.1:p.Ala843Asp
NM_001382806.1:c.2441C>A	NP_001369735.1:p.Ala814Asp
NM_004448.4:c.3479C>A MANE Select	NP_004439.2:p.Ala1160Asp
NR_110535.2:n.3717C>A