Canonical Allele Identifier: CA399313008

Gene: ERBB2

Linked Data

• dbSNP Id: rs2143292810
• gnomAD v4: 17-39727752-C-A
• MyVariant Identifiers: chr17:g.37884005C>A (hg19) ; chr17:g.39727752C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727752C>A , CM000679.2:g.39727752C>A	GRCh38
NC_000017.10:g.37884005C>A , CM000679.1:g.37884005C>A	GRCh37
NC_000017.9:g.35137531C>A	NCBI36
NG_007503.1:g.44613C>A , LRG_724:g.44613C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3476C>A MANE Select	ENSP00000269571.4:p.Ala1159Asp
ENST00000269571.9:c.3476C>A	ENSP00000269571.4:p.Ala1159Asp
ENST00000406381.6:c.3386C>A	ENSP00000385185.2:p.Ala1129Asp
ENST00000445658.6:c.2648C>A	ENSP00000404047.2:p.Ala883Asp
ENST00000541774.5:c.3431C>A	ENSP00000446466.1:p.Ala1144Asp
ENST00000578373.5:c.*3266C>A	ENSP00000463427.1:n.*3266C>A
ENST00000584450.5:c.*55C>A	ENSP00000463714.1:n.*55C>A
ENST00000584601.5:c.3386C>A	ENSP00000462438.1:p.Ala1129Asp
NM_001005862.2:c.3386C>A , LRG_724t1:c.3386C>A	NP_001005862.1:p.Ala1129Asp
NM_001289936.1:c.3431C>A , LRG_724t4:c.3431C>A	NP_001276865.1:p.Ala1144Asp
NM_001289937.1:c.*55C>A	NP_001276866.1:n.*55C>A
NM_004448.3:c.3476C>A , LRG_724t2:c.3476C>A	NP_004439.2:p.Ala1159Asp
NR_110535.1:n.3800C>A
XM_024450641.1:c.3614C>A	XP_024306409.1:p.Ala1205Asp
XM_024450642.1:c.3569C>A	XP_024306410.1:p.Ala1190Asp
XM_024450643.1:c.3524C>A	XP_024306411.1:p.Ala1175Asp
NM_001005862.3:c.3386C>A	NP_001005862.1:p.Ala1129Asp
NM_001289936.2:c.3431C>A	NP_001276865.1:p.Ala1144Asp
NM_001289937.2:c.*55C>A	NP_001276866.1:n.*55C>A
NM_001382782.1:c.3386C>A	NP_001369711.1:p.Ala1129Asp
NM_001382783.1:c.3386C>A	NP_001369712.1:p.Ala1129Asp
NM_001382784.1:c.3593C>A	NP_001369713.1:p.Ala1198Asp
NM_001382785.1:c.3578C>A	NP_001369714.1:p.Ala1193Asp
NM_001382786.1:c.3557C>A	NP_001369715.1:p.Ala1186Asp
NM_001382787.1:c.3551C>A	NP_001369716.1:p.Ala1184Asp
NM_001382788.1:c.3506C>A	NP_001369717.1:p.Ala1169Asp
NM_001382789.1:c.3497C>A	NP_001369718.1:p.Ala1166Asp
NM_001382790.1:c.3473C>A	NP_001369719.1:p.Ala1158Asp
NM_001382791.1:c.3467C>A	NP_001369720.1:p.Ala1156Asp
NM_001382792.1:c.3440C>A	NP_001369721.1:p.Ala1147Asp
NM_001382793.1:c.3434C>A	NP_001369722.1:p.Ala1145Asp
NM_001382794.1:c.3434C>A	NP_001369723.1:p.Ala1145Asp
NM_001382795.1:c.3428C>A	NP_001369724.1:p.Ala1143Asp
NM_001382796.1:c.3389C>A	NP_001369725.1:p.Ala1130Asp
NM_001382797.1:c.3377C>A	NP_001369726.1:p.Ala1126Asp
NM_001382798.1:c.3320C>A	NP_001369727.1:p.Ala1107Asp
NM_001382799.1:c.3296C>A	NP_001369728.1:p.Ala1099Asp
NM_001382800.1:c.3290C>A	NP_001369729.1:p.Ala1097Asp
NM_001382801.1:c.3272C>A	NP_001369730.1:p.Ala1091Asp
NM_001382802.1:c.3218C>A	NP_001369731.1:p.Ala1073Asp
NM_001382803.1:c.*55C>A	NP_001369732.1:n.*55C>A
NM_001382804.1:c.2648C>A	NP_001369733.1:p.Ala883Asp
NM_001382805.1:c.2525C>A	NP_001369734.1:p.Ala842Asp
NM_001382806.1:c.2438C>A	NP_001369735.1:p.Ala813Asp
NM_004448.4:c.3476C>A MANE Select	NP_004439.2:p.Ala1159Asp
NR_110535.2:n.3714C>A