Canonical Allele Identifier: CA399312745

Gene: ERBB2

Linked Data

• dbSNP Id: rs2143257892
• MyVariant Identifiers: chr17:g.37883771T>C (hg19) ; chr17:g.39727518T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727518T>C , CM000679.2:g.39727518T>C	GRCh38
NC_000017.10:g.37883771T>C , CM000679.1:g.37883771T>C	GRCh37
NC_000017.9:g.35137297T>C	NCBI36
NG_007503.1:g.44379T>C , LRG_724:g.44379T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3383T>C MANE Select	ENSP00000269571.4:p.Val1128Ala
ENST00000269571.9:c.3383T>C	ENSP00000269571.4:p.Val1128Ala
ENST00000406381.6:c.3293T>C	ENSP00000385185.2:p.Val1098Ala
ENST00000445658.6:c.2555T>C	ENSP00000404047.2:p.Val852Ala
ENST00000541774.5:c.3338T>C	ENSP00000446466.1:p.Val1113Ala
ENST00000578373.5:c.*3173T>C	ENSP00000463427.1:n.*3173T>C
ENST00000584450.5:c.3160-171T>C	ENSP00000463714.1:n.3160-171T>C
ENST00000584601.5:c.3293T>C	ENSP00000462438.1:p.Val1098Ala
NM_001005862.2:c.3293T>C , LRG_724t1:c.3293T>C	NP_001005862.1:p.Val1098Ala
NM_001289936.1:c.3338T>C , LRG_724t4:c.3338T>C	NP_001276865.1:p.Val1113Ala
NM_001289937.1:c.3160-171T>C	NP_001276866.1:n.3160-171T>C
NM_004448.3:c.3383T>C , LRG_724t2:c.3383T>C	NP_004439.2:p.Val1128Ala
NR_110535.1:n.3707T>C
XM_024450641.1:c.3521T>C	XP_024306409.1:p.Val1174Ala
XM_024450642.1:c.3476T>C	XP_024306410.1:p.Val1159Ala
XM_024450643.1:c.3431T>C	XP_024306411.1:p.Val1144Ala
NM_001005862.3:c.3293T>C	NP_001005862.1:p.Val1098Ala
NM_001289936.2:c.3338T>C	NP_001276865.1:p.Val1113Ala
NM_001289937.2:c.3160-171T>C	NP_001276866.1:n.3160-171T>C
NM_001382782.1:c.3293T>C	NP_001369711.1:p.Val1098Ala
NM_001382783.1:c.3293T>C	NP_001369712.1:p.Val1098Ala
NM_001382784.1:c.3500T>C	NP_001369713.1:p.Val1167Ala
NM_001382785.1:c.3485T>C	NP_001369714.1:p.Val1162Ala
NM_001382786.1:c.3464T>C	NP_001369715.1:p.Val1155Ala
NM_001382787.1:c.3458T>C	NP_001369716.1:p.Val1153Ala
NM_001382788.1:c.3413T>C	NP_001369717.1:p.Val1138Ala
NM_001382789.1:c.3404T>C	NP_001369718.1:p.Val1135Ala
NM_001382790.1:c.3380T>C	NP_001369719.1:p.Val1127Ala
NM_001382791.1:c.3374T>C	NP_001369720.1:p.Val1125Ala
NM_001382792.1:c.3347T>C	NP_001369721.1:p.Val1116Ala
NM_001382793.1:c.3341T>C	NP_001369722.1:p.Val1114Ala
NM_001382794.1:c.3341T>C	NP_001369723.1:p.Val1114Ala
NM_001382795.1:c.3335T>C	NP_001369724.1:p.Val1112Ala
NM_001382796.1:c.3296T>C	NP_001369725.1:p.Val1099Ala
NM_001382797.1:c.3284T>C	NP_001369726.1:p.Val1095Ala
NM_001382798.1:c.3227T>C	NP_001369727.1:p.Val1076Ala
NM_001382799.1:c.3203T>C	NP_001369728.1:p.Val1068Ala
NM_001382800.1:c.3197T>C	NP_001369729.1:p.Val1066Ala
NM_001382801.1:c.3179T>C	NP_001369730.1:p.Val1060Ala
NM_001382802.1:c.3125T>C	NP_001369731.1:p.Val1042Ala
NM_001382803.1:c.3118-171T>C	NP_001369732.1:n.3118-171T>C
NM_001382804.1:c.2555T>C	NP_001369733.1:p.Val852Ala
NM_001382805.1:c.2432T>C	NP_001369734.1:p.Val811Ala
NM_001382806.1:c.2345T>C	NP_001369735.1:p.Val782Ala
NM_004448.4:c.3383T>C MANE Select	NP_004439.2:p.Val1128Ala
NR_110535.2:n.3621T>C