Canonical Allele Identifier: CA399310205

Gene: ERBB2

Linked Data

• dbSNP Id: rs2143234688
• MyVariant Identifiers: chr17:g.37883579A>C (hg19) ; chr17:g.39727326A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727326A>C , CM000679.2:g.39727326A>C	GRCh38
NC_000017.10:g.37883579A>C , CM000679.1:g.37883579A>C	GRCh37
NC_000017.9:g.35137105A>C	NCBI36
NG_007503.1:g.44187A>C , LRG_724:g.44187A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3191A>C MANE Select	ENSP00000269571.4:p.Glu1064Ala
ENST00000269571.9:c.3191A>C	ENSP00000269571.4:p.Glu1064Ala
ENST00000406381.6:c.3101A>C	ENSP00000385185.2:p.Glu1034Ala
ENST00000445658.6:c.2363A>C	ENSP00000404047.2:p.Glu788Ala
ENST00000541774.5:c.3146A>C	ENSP00000446466.1:p.Glu1049Ala
ENST00000578373.5:c.*2981A>C	ENSP00000463427.1:n.*2981A>C
ENST00000584450.5:c.3159+323A>C	ENSP00000463714.1:n.3159+323A>C
ENST00000584601.5:c.3101A>C	ENSP00000462438.1:p.Glu1034Ala
NM_001005862.2:c.3101A>C , LRG_724t1:c.3101A>C	NP_001005862.1:p.Glu1034Ala
NM_001289936.1:c.3146A>C , LRG_724t4:c.3146A>C	NP_001276865.1:p.Glu1049Ala
NM_001289937.1:c.3159+323A>C	NP_001276866.1:n.3159+323A>C
NM_004448.3:c.3191A>C , LRG_724t2:c.3191A>C	NP_004439.2:p.Glu1064Ala
NR_110535.1:n.3515A>C
XM_024450641.1:c.3329A>C	XP_024306409.1:p.Glu1110Ala
XM_024450642.1:c.3284A>C	XP_024306410.1:p.Glu1095Ala
XM_024450643.1:c.3239A>C	XP_024306411.1:p.Glu1080Ala
NM_001005862.3:c.3101A>C	NP_001005862.1:p.Glu1034Ala
NM_001289936.2:c.3146A>C	NP_001276865.1:p.Glu1049Ala
NM_001289937.2:c.3159+323A>C	NP_001276866.1:n.3159+323A>C
NM_001382782.1:c.3101A>C	NP_001369711.1:p.Glu1034Ala
NM_001382783.1:c.3101A>C	NP_001369712.1:p.Glu1034Ala
NM_001382784.1:c.3308A>C	NP_001369713.1:p.Glu1103Ala
NM_001382785.1:c.3293A>C	NP_001369714.1:p.Glu1098Ala
NM_001382786.1:c.3272A>C	NP_001369715.1:p.Glu1091Ala
NM_001382787.1:c.3266A>C	NP_001369716.1:p.Glu1089Ala
NM_001382788.1:c.3221A>C	NP_001369717.1:p.Glu1074Ala
NM_001382789.1:c.3212A>C	NP_001369718.1:p.Glu1071Ala
NM_001382790.1:c.3188A>C	NP_001369719.1:p.Glu1063Ala
NM_001382791.1:c.3182A>C	NP_001369720.1:p.Glu1061Ala
NM_001382792.1:c.3155A>C	NP_001369721.1:p.Glu1052Ala
NM_001382793.1:c.3149A>C	NP_001369722.1:p.Glu1050Ala
NM_001382794.1:c.3149A>C	NP_001369723.1:p.Glu1050Ala
NM_001382795.1:c.3143A>C	NP_001369724.1:p.Glu1048Ala
NM_001382796.1:c.3104A>C	NP_001369725.1:p.Glu1035Ala
NM_001382797.1:c.3092A>C	NP_001369726.1:p.Glu1031Ala
NM_001382798.1:c.3035A>C	NP_001369727.1:p.Glu1012Ala
NM_001382799.1:c.3011A>C	NP_001369728.1:p.Glu1004Ala
NM_001382800.1:c.3005A>C	NP_001369729.1:p.Glu1002Ala
NM_001382801.1:c.2987A>C	NP_001369730.1:p.Glu996Ala
NM_001382802.1:c.2933A>C	NP_001369731.1:p.Glu978Ala
NM_001382803.1:c.3117+323A>C	NP_001369732.1:n.3117+323A>C
NM_001382804.1:c.2363A>C	NP_001369733.1:p.Glu788Ala
NM_001382805.1:c.2240A>C	NP_001369734.1:p.Glu747Ala
NM_001382806.1:c.2153A>C	NP_001369735.1:p.Glu718Ala
NM_004448.4:c.3191A>C MANE Select	NP_004439.2:p.Glu1064Ala
NR_110535.2:n.3429A>C