Canonical Allele Identifier: CA399310680

Gene: ERBB2

Linked Data

• dbSNP Id: rs1597891828
• MyVariant Identifiers: chr17:g.37883668G>C (hg19) ; chr17:g.39727415G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727415G>C , CM000679.2:g.39727415G>C	GRCh38
NC_000017.10:g.37883668G>C , CM000679.1:g.37883668G>C	GRCh37
NC_000017.9:g.35137194G>C	NCBI36
NG_007503.1:g.44276G>C , LRG_724:g.44276G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3280G>C MANE Select	ENSP00000269571.4:p.Ala1094Pro
ENST00000269571.9:c.3280G>C	ENSP00000269571.4:p.Ala1094Pro
ENST00000406381.6:c.3190G>C	ENSP00000385185.2:p.Ala1064Pro
ENST00000445658.6:c.2452G>C	ENSP00000404047.2:p.Ala818Pro
ENST00000541774.5:c.3235G>C	ENSP00000446466.1:p.Ala1079Pro
ENST00000578373.5:c.*3070G>C	ENSP00000463427.1:n.*3070G>C
ENST00000584450.5:c.3160-274G>C	ENSP00000463714.1:n.3160-274G>C
ENST00000584601.5:c.3190G>C	ENSP00000462438.1:p.Ala1064Pro
NM_001005862.2:c.3190G>C , LRG_724t1:c.3190G>C	NP_001005862.1:p.Ala1064Pro
NM_001289936.1:c.3235G>C , LRG_724t4:c.3235G>C	NP_001276865.1:p.Ala1079Pro
NM_001289937.1:c.3160-274G>C	NP_001276866.1:n.3160-274G>C
NM_004448.3:c.3280G>C , LRG_724t2:c.3280G>C	NP_004439.2:p.Ala1094Pro
NR_110535.1:n.3604G>C
XM_024450641.1:c.3418G>C	XP_024306409.1:p.Ala1140Pro
XM_024450642.1:c.3373G>C	XP_024306410.1:p.Ala1125Pro
XM_024450643.1:c.3328G>C	XP_024306411.1:p.Ala1110Pro
NM_001005862.3:c.3190G>C	NP_001005862.1:p.Ala1064Pro
NM_001289936.2:c.3235G>C	NP_001276865.1:p.Ala1079Pro
NM_001289937.2:c.3160-274G>C	NP_001276866.1:n.3160-274G>C
NM_001382782.1:c.3190G>C	NP_001369711.1:p.Ala1064Pro
NM_001382783.1:c.3190G>C	NP_001369712.1:p.Ala1064Pro
NM_001382784.1:c.3397G>C	NP_001369713.1:p.Ala1133Pro
NM_001382785.1:c.3382G>C	NP_001369714.1:p.Ala1128Pro
NM_001382786.1:c.3361G>C	NP_001369715.1:p.Ala1121Pro
NM_001382787.1:c.3355G>C	NP_001369716.1:p.Ala1119Pro
NM_001382788.1:c.3310G>C	NP_001369717.1:p.Ala1104Pro
NM_001382789.1:c.3301G>C	NP_001369718.1:p.Ala1101Pro
NM_001382790.1:c.3277G>C	NP_001369719.1:p.Ala1093Pro
NM_001382791.1:c.3271G>C	NP_001369720.1:p.Ala1091Pro
NM_001382792.1:c.3244G>C	NP_001369721.1:p.Ala1082Pro
NM_001382793.1:c.3238G>C	NP_001369722.1:p.Ala1080Pro
NM_001382794.1:c.3238G>C	NP_001369723.1:p.Ala1080Pro
NM_001382795.1:c.3232G>C	NP_001369724.1:p.Ala1078Pro
NM_001382796.1:c.3193G>C	NP_001369725.1:p.Ala1065Pro
NM_001382797.1:c.3181G>C	NP_001369726.1:p.Ala1061Pro
NM_001382798.1:c.3124G>C	NP_001369727.1:p.Ala1042Pro
NM_001382799.1:c.3100G>C	NP_001369728.1:p.Ala1034Pro
NM_001382800.1:c.3094G>C	NP_001369729.1:p.Ala1032Pro
NM_001382801.1:c.3076G>C	NP_001369730.1:p.Ala1026Pro
NM_001382802.1:c.3022G>C	NP_001369731.1:p.Ala1008Pro
NM_001382803.1:c.3118-274G>C	NP_001369732.1:n.3118-274G>C
NM_001382804.1:c.2452G>C	NP_001369733.1:p.Ala818Pro
NM_001382805.1:c.2329G>C	NP_001369734.1:p.Ala777Pro
NM_001382806.1:c.2242G>C	NP_001369735.1:p.Ala748Pro
NM_004448.4:c.3280G>C MANE Select	NP_004439.2:p.Ala1094Pro
NR_110535.2:n.3518G>C