Canonical Allele Identifier: CA399310275

Gene: ERBB2

Linked Data

• dbSNP Id: rs1465484829
• gnomAD v4: 17-39727341-A-T
• MyVariant Identifiers: chr17:g.37883594A>T (hg19) ; chr17:g.39727341A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727341A>T , CM000679.2:g.39727341A>T	GRCh38
NC_000017.10:g.37883594A>T , CM000679.1:g.37883594A>T	GRCh37
NC_000017.9:g.35137120A>T	NCBI36
NG_007503.1:g.44202A>T , LRG_724:g.44202A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3206A>T MANE Select	ENSP00000269571.4:p.Glu1069Val
ENST00000269571.9:c.3206A>T	ENSP00000269571.4:p.Glu1069Val
ENST00000406381.6:c.3116A>T	ENSP00000385185.2:p.Glu1039Val
ENST00000445658.6:c.2378A>T	ENSP00000404047.2:p.Glu793Val
ENST00000541774.5:c.3161A>T	ENSP00000446466.1:p.Glu1054Val
ENST00000578373.5:c.*2996A>T	ENSP00000463427.1:n.*2996A>T
ENST00000584450.5:c.3159+338A>T	ENSP00000463714.1:n.3159+338A>T
ENST00000584601.5:c.3116A>T	ENSP00000462438.1:p.Glu1039Val
NM_001005862.2:c.3116A>T , LRG_724t1:c.3116A>T	NP_001005862.1:p.Glu1039Val
NM_001289936.1:c.3161A>T , LRG_724t4:c.3161A>T	NP_001276865.1:p.Glu1054Val
NM_001289937.1:c.3159+338A>T	NP_001276866.1:n.3159+338A>T
NM_004448.3:c.3206A>T , LRG_724t2:c.3206A>T	NP_004439.2:p.Glu1069Val
NR_110535.1:n.3530A>T
XM_024450641.1:c.3344A>T	XP_024306409.1:p.Glu1115Val
XM_024450642.1:c.3299A>T	XP_024306410.1:p.Glu1100Val
XM_024450643.1:c.3254A>T	XP_024306411.1:p.Glu1085Val
NM_001005862.3:c.3116A>T	NP_001005862.1:p.Glu1039Val
NM_001289936.2:c.3161A>T	NP_001276865.1:p.Glu1054Val
NM_001289937.2:c.3159+338A>T	NP_001276866.1:n.3159+338A>T
NM_001382782.1:c.3116A>T	NP_001369711.1:p.Glu1039Val
NM_001382783.1:c.3116A>T	NP_001369712.1:p.Glu1039Val
NM_001382784.1:c.3323A>T	NP_001369713.1:p.Glu1108Val
NM_001382785.1:c.3308A>T	NP_001369714.1:p.Glu1103Val
NM_001382786.1:c.3287A>T	NP_001369715.1:p.Glu1096Val
NM_001382787.1:c.3281A>T	NP_001369716.1:p.Glu1094Val
NM_001382788.1:c.3236A>T	NP_001369717.1:p.Glu1079Val
NM_001382789.1:c.3227A>T	NP_001369718.1:p.Glu1076Val
NM_001382790.1:c.3203A>T	NP_001369719.1:p.Glu1068Val
NM_001382791.1:c.3197A>T	NP_001369720.1:p.Glu1066Val
NM_001382792.1:c.3170A>T	NP_001369721.1:p.Glu1057Val
NM_001382793.1:c.3164A>T	NP_001369722.1:p.Glu1055Val
NM_001382794.1:c.3164A>T	NP_001369723.1:p.Glu1055Val
NM_001382795.1:c.3158A>T	NP_001369724.1:p.Glu1053Val
NM_001382796.1:c.3119A>T	NP_001369725.1:p.Glu1040Val
NM_001382797.1:c.3107A>T	NP_001369726.1:p.Glu1036Val
NM_001382798.1:c.3050A>T	NP_001369727.1:p.Glu1017Val
NM_001382799.1:c.3026A>T	NP_001369728.1:p.Glu1009Val
NM_001382800.1:c.3020A>T	NP_001369729.1:p.Glu1007Val
NM_001382801.1:c.3002A>T	NP_001369730.1:p.Glu1001Val
NM_001382802.1:c.2948A>T	NP_001369731.1:p.Glu983Val
NM_001382803.1:c.3117+338A>T	NP_001369732.1:n.3117+338A>T
NM_001382804.1:c.2378A>T	NP_001369733.1:p.Glu793Val
NM_001382805.1:c.2255A>T	NP_001369734.1:p.Glu752Val
NM_001382806.1:c.2168A>T	NP_001369735.1:p.Glu723Val
NM_004448.4:c.3206A>T MANE Select	NP_004439.2:p.Glu1069Val
NR_110535.2:n.3444A>T