Canonical Allele Identifier: CA399310201

Gene: ERBB2

Linked Data

• dbSNP Id: rs376450229
• MyVariant Identifiers: chr17:g.37883578G>C (hg19) ; chr17:g.39727325G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727325G>C , CM000679.2:g.39727325G>C	GRCh38
NC_000017.10:g.37883578G>C , CM000679.1:g.37883578G>C	GRCh37
NC_000017.9:g.35137104G>C	NCBI36
NG_007503.1:g.44186G>C , LRG_724:g.44186G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3190G>C MANE Select	ENSP00000269571.4:p.Glu1064Gln
ENST00000269571.9:c.3190G>C	ENSP00000269571.4:p.Glu1064Gln
ENST00000406381.6:c.3100G>C	ENSP00000385185.2:p.Glu1034Gln
ENST00000445658.6:c.2362G>C	ENSP00000404047.2:p.Glu788Gln
ENST00000541774.5:c.3145G>C	ENSP00000446466.1:p.Glu1049Gln
ENST00000578373.5:c.*2980G>C	ENSP00000463427.1:n.*2980G>C
ENST00000584450.5:c.3159+322G>C	ENSP00000463714.1:n.3159+322G>C
ENST00000584601.5:c.3100G>C	ENSP00000462438.1:p.Glu1034Gln
NM_001005862.2:c.3100G>C , LRG_724t1:c.3100G>C	NP_001005862.1:p.Glu1034Gln
NM_001289936.1:c.3145G>C , LRG_724t4:c.3145G>C	NP_001276865.1:p.Glu1049Gln
NM_001289937.1:c.3159+322G>C	NP_001276866.1:n.3159+322G>C
NM_004448.3:c.3190G>C , LRG_724t2:c.3190G>C	NP_004439.2:p.Glu1064Gln
NR_110535.1:n.3514G>C
XM_024450641.1:c.3328G>C	XP_024306409.1:p.Glu1110Gln
XM_024450642.1:c.3283G>C	XP_024306410.1:p.Glu1095Gln
XM_024450643.1:c.3238G>C	XP_024306411.1:p.Glu1080Gln
NM_001005862.3:c.3100G>C	NP_001005862.1:p.Glu1034Gln
NM_001289936.2:c.3145G>C	NP_001276865.1:p.Glu1049Gln
NM_001289937.2:c.3159+322G>C	NP_001276866.1:n.3159+322G>C
NM_001382782.1:c.3100G>C	NP_001369711.1:p.Glu1034Gln
NM_001382783.1:c.3100G>C	NP_001369712.1:p.Glu1034Gln
NM_001382784.1:c.3307G>C	NP_001369713.1:p.Glu1103Gln
NM_001382785.1:c.3292G>C	NP_001369714.1:p.Glu1098Gln
NM_001382786.1:c.3271G>C	NP_001369715.1:p.Glu1091Gln
NM_001382787.1:c.3265G>C	NP_001369716.1:p.Glu1089Gln
NM_001382788.1:c.3220G>C	NP_001369717.1:p.Glu1074Gln
NM_001382789.1:c.3211G>C	NP_001369718.1:p.Glu1071Gln
NM_001382790.1:c.3187G>C	NP_001369719.1:p.Glu1063Gln
NM_001382791.1:c.3181G>C	NP_001369720.1:p.Glu1061Gln
NM_001382792.1:c.3154G>C	NP_001369721.1:p.Glu1052Gln
NM_001382793.1:c.3148G>C	NP_001369722.1:p.Glu1050Gln
NM_001382794.1:c.3148G>C	NP_001369723.1:p.Glu1050Gln
NM_001382795.1:c.3142G>C	NP_001369724.1:p.Glu1048Gln
NM_001382796.1:c.3103G>C	NP_001369725.1:p.Glu1035Gln
NM_001382797.1:c.3091G>C	NP_001369726.1:p.Glu1031Gln
NM_001382798.1:c.3034G>C	NP_001369727.1:p.Glu1012Gln
NM_001382799.1:c.3010G>C	NP_001369728.1:p.Glu1004Gln
NM_001382800.1:c.3004G>C	NP_001369729.1:p.Glu1002Gln
NM_001382801.1:c.2986G>C	NP_001369730.1:p.Glu996Gln
NM_001382802.1:c.2932G>C	NP_001369731.1:p.Glu978Gln
NM_001382803.1:c.3117+322G>C	NP_001369732.1:n.3117+322G>C
NM_001382804.1:c.2362G>C	NP_001369733.1:p.Glu788Gln
NM_001382805.1:c.2239G>C	NP_001369734.1:p.Glu747Gln
NM_001382806.1:c.2152G>C	NP_001369735.1:p.Glu718Gln
NM_004448.4:c.3190G>C MANE Select	NP_004439.2:p.Glu1064Gln
NR_110535.2:n.3428G>C