Canonical Allele Identifier: CA399314559

Gene: ERBB2

Linked Data

• gnomAD v4: 17-39727963-G-T
• MyVariant Identifiers: chr17:g.37884216G>T (hg19) ; chr17:g.39727963G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727963G>T , CM000679.2:g.39727963G>T	GRCh38
NC_000017.10:g.37884216G>T , CM000679.1:g.37884216G>T	GRCh37
NC_000017.9:g.35137742G>T	NCBI36
NG_007503.1:g.44824G>T , LRG_724:g.44824G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3687G>T MANE Select	ENSP00000269571.4:p.Glu1229Asp
ENST00000269571.9:c.3687G>T	ENSP00000269571.4:p.Glu1229Asp
ENST00000406381.6:c.3597G>T	ENSP00000385185.2:p.Glu1199Asp
ENST00000445658.6:c.2859G>T	ENSP00000404047.2:p.Glu953Asp
ENST00000541774.5:c.3642G>T	ENSP00000446466.1:p.Glu1214Asp
ENST00000578373.5:c.*3477G>T	ENSP00000463427.1:n.*3477G>T
ENST00000584450.5:c.*266G>T	ENSP00000463714.1:n.*266G>T
ENST00000584601.5:c.3597G>T	ENSP00000462438.1:p.Glu1199Asp
NM_001005862.2:c.3597G>T , LRG_724t1:c.3597G>T	NP_001005862.1:p.Glu1199Asp
NM_001289936.1:c.3642G>T , LRG_724t4:c.3642G>T	NP_001276865.1:p.Glu1214Asp
NM_001289937.1:c.*266G>T	NP_001276866.1:n.*266G>T
NM_004448.3:c.3687G>T , LRG_724t2:c.3687G>T	NP_004439.2:p.Glu1229Asp
NR_110535.1:n.4011G>T
XM_024450641.1:c.3825G>T	XP_024306409.1:p.Glu1275Asp
XM_024450642.1:c.3780G>T	XP_024306410.1:p.Glu1260Asp
XM_024450643.1:c.3735G>T	XP_024306411.1:p.Glu1245Asp
NM_001005862.3:c.3597G>T	NP_001005862.1:p.Glu1199Asp
NM_001289936.2:c.3642G>T	NP_001276865.1:p.Glu1214Asp
NM_001289937.2:c.*266G>T	NP_001276866.1:n.*266G>T
NM_001382782.1:c.3597G>T	NP_001369711.1:p.Glu1199Asp
NM_001382783.1:c.3597G>T	NP_001369712.1:p.Glu1199Asp
NM_001382784.1:c.3804G>T	NP_001369713.1:p.Glu1268Asp
NM_001382785.1:c.3789G>T	NP_001369714.1:p.Glu1263Asp
NM_001382786.1:c.3768G>T	NP_001369715.1:p.Glu1256Asp
NM_001382787.1:c.3762G>T	NP_001369716.1:p.Glu1254Asp
NM_001382788.1:c.3717G>T	NP_001369717.1:p.Glu1239Asp
NM_001382789.1:c.3708G>T	NP_001369718.1:p.Glu1236Asp
NM_001382790.1:c.3684G>T	NP_001369719.1:p.Glu1228Asp
NM_001382791.1:c.3678G>T	NP_001369720.1:p.Glu1226Asp
NM_001382792.1:c.3651G>T	NP_001369721.1:p.Glu1217Asp
NM_001382793.1:c.3645G>T	NP_001369722.1:p.Glu1215Asp
NM_001382794.1:c.3645G>T	NP_001369723.1:p.Glu1215Asp
NM_001382795.1:c.3639G>T	NP_001369724.1:p.Glu1213Asp
NM_001382796.1:c.3600G>T	NP_001369725.1:p.Glu1200Asp
NM_001382797.1:c.3588G>T	NP_001369726.1:p.Glu1196Asp
NM_001382798.1:c.3531G>T	NP_001369727.1:p.Glu1177Asp
NM_001382799.1:c.3507G>T	NP_001369728.1:p.Glu1169Asp
NM_001382800.1:c.3501G>T	NP_001369729.1:p.Glu1167Asp
NM_001382801.1:c.3483G>T	NP_001369730.1:p.Glu1161Asp
NM_001382802.1:c.3429G>T	NP_001369731.1:p.Glu1143Asp
NM_001382803.1:c.*266G>T	NP_001369732.1:n.*266G>T
NM_001382804.1:c.2859G>T	NP_001369733.1:p.Glu953Asp
NM_001382805.1:c.2736G>T	NP_001369734.1:p.Glu912Asp
NM_001382806.1:c.2649G>T	NP_001369735.1:p.Glu883Asp
NM_004448.4:c.3687G>T MANE Select	NP_004439.2:p.Glu1229Asp
NR_110535.2:n.3925G>T