Canonical Allele Identifier: CA399310702

Gene: ERBB2

Linked Data

• dbSNP Id: rs2143246377
• MyVariant Identifiers: chr17:g.37883672C>T (hg19) ; chr17:g.39727419C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727419C>T , CM000679.2:g.39727419C>T	GRCh38
NC_000017.10:g.37883672C>T , CM000679.1:g.37883672C>T	GRCh37
NC_000017.9:g.35137198C>T	NCBI36
NG_007503.1:g.44280C>T , LRG_724:g.44280C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3284C>T MANE Select	ENSP00000269571.4:p.Ala1095Val
ENST00000269571.9:c.3284C>T	ENSP00000269571.4:p.Ala1095Val
ENST00000406381.6:c.3194C>T	ENSP00000385185.2:p.Ala1065Val
ENST00000445658.6:c.2456C>T	ENSP00000404047.2:p.Ala819Val
ENST00000541774.5:c.3239C>T	ENSP00000446466.1:p.Ala1080Val
ENST00000578373.5:c.*3074C>T	ENSP00000463427.1:n.*3074C>T
ENST00000584450.5:c.3160-270C>T	ENSP00000463714.1:n.3160-270C>T
ENST00000584601.5:c.3194C>T	ENSP00000462438.1:p.Ala1065Val
NM_001005862.2:c.3194C>T , LRG_724t1:c.3194C>T	NP_001005862.1:p.Ala1065Val
NM_001289936.1:c.3239C>T , LRG_724t4:c.3239C>T	NP_001276865.1:p.Ala1080Val
NM_001289937.1:c.3160-270C>T	NP_001276866.1:n.3160-270C>T
NM_004448.3:c.3284C>T , LRG_724t2:c.3284C>T	NP_004439.2:p.Ala1095Val
NR_110535.1:n.3608C>T
XM_024450641.1:c.3422C>T	XP_024306409.1:p.Ala1141Val
XM_024450642.1:c.3377C>T	XP_024306410.1:p.Ala1126Val
XM_024450643.1:c.3332C>T	XP_024306411.1:p.Ala1111Val
NM_001005862.3:c.3194C>T	NP_001005862.1:p.Ala1065Val
NM_001289936.2:c.3239C>T	NP_001276865.1:p.Ala1080Val
NM_001289937.2:c.3160-270C>T	NP_001276866.1:n.3160-270C>T
NM_001382782.1:c.3194C>T	NP_001369711.1:p.Ala1065Val
NM_001382783.1:c.3194C>T	NP_001369712.1:p.Ala1065Val
NM_001382784.1:c.3401C>T	NP_001369713.1:p.Ala1134Val
NM_001382785.1:c.3386C>T	NP_001369714.1:p.Ala1129Val
NM_001382786.1:c.3365C>T	NP_001369715.1:p.Ala1122Val
NM_001382787.1:c.3359C>T	NP_001369716.1:p.Ala1120Val
NM_001382788.1:c.3314C>T	NP_001369717.1:p.Ala1105Val
NM_001382789.1:c.3305C>T	NP_001369718.1:p.Ala1102Val
NM_001382790.1:c.3281C>T	NP_001369719.1:p.Ala1094Val
NM_001382791.1:c.3275C>T	NP_001369720.1:p.Ala1092Val
NM_001382792.1:c.3248C>T	NP_001369721.1:p.Ala1083Val
NM_001382793.1:c.3242C>T	NP_001369722.1:p.Ala1081Val
NM_001382794.1:c.3242C>T	NP_001369723.1:p.Ala1081Val
NM_001382795.1:c.3236C>T	NP_001369724.1:p.Ala1079Val
NM_001382796.1:c.3197C>T	NP_001369725.1:p.Ala1066Val
NM_001382797.1:c.3185C>T	NP_001369726.1:p.Ala1062Val
NM_001382798.1:c.3128C>T	NP_001369727.1:p.Ala1043Val
NM_001382799.1:c.3104C>T	NP_001369728.1:p.Ala1035Val
NM_001382800.1:c.3098C>T	NP_001369729.1:p.Ala1033Val
NM_001382801.1:c.3080C>T	NP_001369730.1:p.Ala1027Val
NM_001382802.1:c.3026C>T	NP_001369731.1:p.Ala1009Val
NM_001382803.1:c.3118-270C>T	NP_001369732.1:n.3118-270C>T
NM_001382804.1:c.2456C>T	NP_001369733.1:p.Ala819Val
NM_001382805.1:c.2333C>T	NP_001369734.1:p.Ala778Val
NM_001382806.1:c.2246C>T	NP_001369735.1:p.Ala749Val
NM_004448.4:c.3284C>T MANE Select	NP_004439.2:p.Ala1095Val
NR_110535.2:n.3522C>T