Canonical Allele Identifier: CA399312580

Gene: ERBB2

Linked Data

• dbSNP Id: rs2143252932
• MyVariant Identifiers: chr17:g.37883728G>C (hg19) ; chr17:g.39727475G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727475G>C , CM000679.2:g.39727475G>C	GRCh38
NC_000017.10:g.37883728G>C , CM000679.1:g.37883728G>C	GRCh37
NC_000017.9:g.35137254G>C	NCBI36
NG_007503.1:g.44336G>C , LRG_724:g.44336G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3340G>C MANE Select	ENSP00000269571.4:p.Glu1114Gln
ENST00000269571.9:c.3340G>C	ENSP00000269571.4:p.Glu1114Gln
ENST00000406381.6:c.3250G>C	ENSP00000385185.2:p.Glu1084Gln
ENST00000445658.6:c.2512G>C	ENSP00000404047.2:p.Glu838Gln
ENST00000541774.5:c.3295G>C	ENSP00000446466.1:p.Glu1099Gln
ENST00000578373.5:c.*3130G>C	ENSP00000463427.1:n.*3130G>C
ENST00000584450.5:c.3160-214G>C	ENSP00000463714.1:n.3160-214G>C
ENST00000584601.5:c.3250G>C	ENSP00000462438.1:p.Glu1084Gln
NM_001005862.2:c.3250G>C , LRG_724t1:c.3250G>C	NP_001005862.1:p.Glu1084Gln
NM_001289936.1:c.3295G>C , LRG_724t4:c.3295G>C	NP_001276865.1:p.Glu1099Gln
NM_001289937.1:c.3160-214G>C	NP_001276866.1:n.3160-214G>C
NM_004448.3:c.3340G>C , LRG_724t2:c.3340G>C	NP_004439.2:p.Glu1114Gln
NR_110535.1:n.3664G>C
XM_024450641.1:c.3478G>C	XP_024306409.1:p.Glu1160Gln
XM_024450642.1:c.3433G>C	XP_024306410.1:p.Glu1145Gln
XM_024450643.1:c.3388G>C	XP_024306411.1:p.Glu1130Gln
NM_001005862.3:c.3250G>C	NP_001005862.1:p.Glu1084Gln
NM_001289936.2:c.3295G>C	NP_001276865.1:p.Glu1099Gln
NM_001289937.2:c.3160-214G>C	NP_001276866.1:n.3160-214G>C
NM_001382782.1:c.3250G>C	NP_001369711.1:p.Glu1084Gln
NM_001382783.1:c.3250G>C	NP_001369712.1:p.Glu1084Gln
NM_001382784.1:c.3457G>C	NP_001369713.1:p.Glu1153Gln
NM_001382785.1:c.3442G>C	NP_001369714.1:p.Glu1148Gln
NM_001382786.1:c.3421G>C	NP_001369715.1:p.Glu1141Gln
NM_001382787.1:c.3415G>C	NP_001369716.1:p.Glu1139Gln
NM_001382788.1:c.3370G>C	NP_001369717.1:p.Glu1124Gln
NM_001382789.1:c.3361G>C	NP_001369718.1:p.Glu1121Gln
NM_001382790.1:c.3337G>C	NP_001369719.1:p.Glu1113Gln
NM_001382791.1:c.3331G>C	NP_001369720.1:p.Glu1111Gln
NM_001382792.1:c.3304G>C	NP_001369721.1:p.Glu1102Gln
NM_001382793.1:c.3298G>C	NP_001369722.1:p.Glu1100Gln
NM_001382794.1:c.3298G>C	NP_001369723.1:p.Glu1100Gln
NM_001382795.1:c.3292G>C	NP_001369724.1:p.Glu1098Gln
NM_001382796.1:c.3253G>C	NP_001369725.1:p.Glu1085Gln
NM_001382797.1:c.3241G>C	NP_001369726.1:p.Glu1081Gln
NM_001382798.1:c.3184G>C	NP_001369727.1:p.Glu1062Gln
NM_001382799.1:c.3160G>C	NP_001369728.1:p.Glu1054Gln
NM_001382800.1:c.3154G>C	NP_001369729.1:p.Glu1052Gln
NM_001382801.1:c.3136G>C	NP_001369730.1:p.Glu1046Gln
NM_001382802.1:c.3082G>C	NP_001369731.1:p.Glu1028Gln
NM_001382803.1:c.3118-214G>C	NP_001369732.1:n.3118-214G>C
NM_001382804.1:c.2512G>C	NP_001369733.1:p.Glu838Gln
NM_001382805.1:c.2389G>C	NP_001369734.1:p.Glu797Gln
NM_001382806.1:c.2302G>C	NP_001369735.1:p.Glu768Gln
NM_004448.4:c.3340G>C MANE Select	NP_004439.2:p.Glu1114Gln
NR_110535.2:n.3578G>C