Canonical Allele Identifier: CA399310268

Gene: ERBB2

Linked Data

• dbSNP Id: rs2143236581
• MyVariant Identifiers: chr17:g.37883593G>C (hg19) ; chr17:g.39727340G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727340G>C , CM000679.2:g.39727340G>C	GRCh38
NC_000017.10:g.37883593G>C , CM000679.1:g.37883593G>C	GRCh37
NC_000017.9:g.35137119G>C	NCBI36
NG_007503.1:g.44201G>C , LRG_724:g.44201G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3205G>C MANE Select	ENSP00000269571.4:p.Glu1069Gln
ENST00000269571.9:c.3205G>C	ENSP00000269571.4:p.Glu1069Gln
ENST00000406381.6:c.3115G>C	ENSP00000385185.2:p.Glu1039Gln
ENST00000445658.6:c.2377G>C	ENSP00000404047.2:p.Glu793Gln
ENST00000541774.5:c.3160G>C	ENSP00000446466.1:p.Glu1054Gln
ENST00000578373.5:c.*2995G>C	ENSP00000463427.1:n.*2995G>C
ENST00000584450.5:c.3159+337G>C	ENSP00000463714.1:n.3159+337G>C
ENST00000584601.5:c.3115G>C	ENSP00000462438.1:p.Glu1039Gln
NM_001005862.2:c.3115G>C , LRG_724t1:c.3115G>C	NP_001005862.1:p.Glu1039Gln
NM_001289936.1:c.3160G>C , LRG_724t4:c.3160G>C	NP_001276865.1:p.Glu1054Gln
NM_001289937.1:c.3159+337G>C	NP_001276866.1:n.3159+337G>C
NM_004448.3:c.3205G>C , LRG_724t2:c.3205G>C	NP_004439.2:p.Glu1069Gln
NR_110535.1:n.3529G>C
XM_024450641.1:c.3343G>C	XP_024306409.1:p.Glu1115Gln
XM_024450642.1:c.3298G>C	XP_024306410.1:p.Glu1100Gln
XM_024450643.1:c.3253G>C	XP_024306411.1:p.Glu1085Gln
NM_001005862.3:c.3115G>C	NP_001005862.1:p.Glu1039Gln
NM_001289936.2:c.3160G>C	NP_001276865.1:p.Glu1054Gln
NM_001289937.2:c.3159+337G>C	NP_001276866.1:n.3159+337G>C
NM_001382782.1:c.3115G>C	NP_001369711.1:p.Glu1039Gln
NM_001382783.1:c.3115G>C	NP_001369712.1:p.Glu1039Gln
NM_001382784.1:c.3322G>C	NP_001369713.1:p.Glu1108Gln
NM_001382785.1:c.3307G>C	NP_001369714.1:p.Glu1103Gln
NM_001382786.1:c.3286G>C	NP_001369715.1:p.Glu1096Gln
NM_001382787.1:c.3280G>C	NP_001369716.1:p.Glu1094Gln
NM_001382788.1:c.3235G>C	NP_001369717.1:p.Glu1079Gln
NM_001382789.1:c.3226G>C	NP_001369718.1:p.Glu1076Gln
NM_001382790.1:c.3202G>C	NP_001369719.1:p.Glu1068Gln
NM_001382791.1:c.3196G>C	NP_001369720.1:p.Glu1066Gln
NM_001382792.1:c.3169G>C	NP_001369721.1:p.Glu1057Gln
NM_001382793.1:c.3163G>C	NP_001369722.1:p.Glu1055Gln
NM_001382794.1:c.3163G>C	NP_001369723.1:p.Glu1055Gln
NM_001382795.1:c.3157G>C	NP_001369724.1:p.Glu1053Gln
NM_001382796.1:c.3118G>C	NP_001369725.1:p.Glu1040Gln
NM_001382797.1:c.3106G>C	NP_001369726.1:p.Glu1036Gln
NM_001382798.1:c.3049G>C	NP_001369727.1:p.Glu1017Gln
NM_001382799.1:c.3025G>C	NP_001369728.1:p.Glu1009Gln
NM_001382800.1:c.3019G>C	NP_001369729.1:p.Glu1007Gln
NM_001382801.1:c.3001G>C	NP_001369730.1:p.Glu1001Gln
NM_001382802.1:c.2947G>C	NP_001369731.1:p.Glu983Gln
NM_001382803.1:c.3117+337G>C	NP_001369732.1:n.3117+337G>C
NM_001382804.1:c.2377G>C	NP_001369733.1:p.Glu793Gln
NM_001382805.1:c.2254G>C	NP_001369734.1:p.Glu752Gln
NM_001382806.1:c.2167G>C	NP_001369735.1:p.Glu723Gln
NM_004448.4:c.3205G>C MANE Select	NP_004439.2:p.Glu1069Gln
NR_110535.2:n.3443G>C