Canonical Allele Identifier: CA399310272

Gene: ERBB2

Linked Data

• dbSNP Id: rs1465484829
• gnomAD v2: 17-37883594-A-C
• gnomAD v4: 17-39727341-A-C
• MyVariant Identifiers: chr17:g.37883594A>C (hg19) ; chr17:g.39727341A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3206A>C MANE Select	ENSP00000269571.4:p.Glu1069Ala
ENST00000269571.9:c.3206A>C	ENSP00000269571.4:p.Glu1069Ala
ENST00000406381.6:c.3116A>C	ENSP00000385185.2:p.Glu1039Ala
ENST00000445658.6:c.2378A>C	ENSP00000404047.2:p.Glu793Ala
ENST00000541774.5:c.3161A>C	ENSP00000446466.1:p.Glu1054Ala
ENST00000578373.5:c.*2996A>C	ENSP00000463427.1:n.*2996A>C
ENST00000584450.5:c.3159+338A>C	ENSP00000463714.1:n.3159+338A>C
ENST00000584601.5:c.3116A>C	ENSP00000462438.1:p.Glu1039Ala
NM_001005862.2:c.3116A>C , LRG_724t1:c.3116A>C	NP_001005862.1:p.Glu1039Ala
NM_001289936.1:c.3161A>C , LRG_724t4:c.3161A>C	NP_001276865.1:p.Glu1054Ala
NM_001289937.1:c.3159+338A>C	NP_001276866.1:n.3159+338A>C
NM_004448.3:c.3206A>C , LRG_724t2:c.3206A>C	NP_004439.2:p.Glu1069Ala
NR_110535.1:n.3530A>C
XM_024450641.1:c.3344A>C	XP_024306409.1:p.Glu1115Ala
XM_024450642.1:c.3299A>C	XP_024306410.1:p.Glu1100Ala
XM_024450643.1:c.3254A>C	XP_024306411.1:p.Glu1085Ala
NM_001005862.3:c.3116A>C	NP_001005862.1:p.Glu1039Ala
NM_001289936.2:c.3161A>C	NP_001276865.1:p.Glu1054Ala
NM_001289937.2:c.3159+338A>C	NP_001276866.1:n.3159+338A>C
NM_001382782.1:c.3116A>C	NP_001369711.1:p.Glu1039Ala
NM_001382783.1:c.3116A>C	NP_001369712.1:p.Glu1039Ala
NM_001382784.1:c.3323A>C	NP_001369713.1:p.Glu1108Ala
NM_001382785.1:c.3308A>C	NP_001369714.1:p.Glu1103Ala
NM_001382786.1:c.3287A>C	NP_001369715.1:p.Glu1096Ala
NM_001382787.1:c.3281A>C	NP_001369716.1:p.Glu1094Ala
NM_001382788.1:c.3236A>C	NP_001369717.1:p.Glu1079Ala
NM_001382789.1:c.3227A>C	NP_001369718.1:p.Glu1076Ala
NM_001382790.1:c.3203A>C	NP_001369719.1:p.Glu1068Ala
NM_001382791.1:c.3197A>C	NP_001369720.1:p.Glu1066Ala
NM_001382792.1:c.3170A>C	NP_001369721.1:p.Glu1057Ala
NM_001382793.1:c.3164A>C	NP_001369722.1:p.Glu1055Ala
NM_001382794.1:c.3164A>C	NP_001369723.1:p.Glu1055Ala
NM_001382795.1:c.3158A>C	NP_001369724.1:p.Glu1053Ala
NM_001382796.1:c.3119A>C	NP_001369725.1:p.Glu1040Ala
NM_001382797.1:c.3107A>C	NP_001369726.1:p.Glu1036Ala
NM_001382798.1:c.3050A>C	NP_001369727.1:p.Glu1017Ala
NM_001382799.1:c.3026A>C	NP_001369728.1:p.Glu1009Ala
NM_001382800.1:c.3020A>C	NP_001369729.1:p.Glu1007Ala
NM_001382801.1:c.3002A>C	NP_001369730.1:p.Glu1001Ala
NM_001382802.1:c.2948A>C	NP_001369731.1:p.Glu983Ala
NM_001382803.1:c.3117+338A>C	NP_001369732.1:n.3117+338A>C
NM_001382804.1:c.2378A>C	NP_001369733.1:p.Glu793Ala
NM_001382805.1:c.2255A>C	NP_001369734.1:p.Glu752Ala
NM_001382806.1:c.2168A>C	NP_001369735.1:p.Glu723Ala
NM_004448.4:c.3206A>C MANE Select	NP_004439.2:p.Glu1069Ala
NR_110535.2:n.3444A>C