Canonical Allele Identifier: CA499671635

Gene: ERBB2

Linked Data

• dbSNP Id: rs2143241168
• MyVariant Identifiers: chr17:g.37883631T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727378T>C , CM000679.2:g.39727378T>C	GRCh38
NC_000017.10:g.37883631T>C , CM000679.1:g.37883631T>C	GRCh37
NC_000017.9:g.35137157T>C	NCBI36
NG_007503.1:g.44239T>C , LRG_724:g.44239T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3243T>C MANE Select	ENSP00000269571.4:p.Ala1081=
ENST00000269571.9:c.3243T>C	ENSP00000269571.4:p.Ala1081=
ENST00000406381.6:c.3153T>C	ENSP00000385185.2:p.Ala1051=
ENST00000445658.6:c.2415T>C	ENSP00000404047.2:p.Ala805=
ENST00000541774.5:c.3198T>C	ENSP00000446466.1:p.Ala1066=
ENST00000578373.5:c.*3033T>C	ENSP00000463427.1:n.*3033T>C
ENST00000584450.5:c.3160-311T>C	ENSP00000463714.1:n.3160-311T>C
ENST00000584601.5:c.3153T>C	ENSP00000462438.1:p.Ala1051=
NM_001005862.2:c.3153T>C , LRG_724t1:c.3153T>C	NP_001005862.1:p.Ala1051=
NM_001289936.1:c.3198T>C , LRG_724t4:c.3198T>C	NP_001276865.1:p.Ala1066=
NM_001289937.1:c.3160-311T>C	NP_001276866.1:n.3160-311T>C
NM_004448.3:c.3243T>C , LRG_724t2:c.3243T>C	NP_004439.2:p.Ala1081=
NR_110535.1:n.3567T>C
XM_024450641.1:c.3381T>C	XP_024306409.1:p.Ala1127=
XM_024450642.1:c.3336T>C	XP_024306410.1:p.Ala1112=
XM_024450643.1:c.3291T>C	XP_024306411.1:p.Ala1097=
NM_001005862.3:c.3153T>C	NP_001005862.1:p.Ala1051=
NM_001289936.2:c.3198T>C	NP_001276865.1:p.Ala1066=
NM_001289937.2:c.3160-311T>C	NP_001276866.1:n.3160-311T>C
NM_001382782.1:c.3153T>C	NP_001369711.1:p.Ala1051=
NM_001382783.1:c.3153T>C	NP_001369712.1:p.Ala1051=
NM_001382784.1:c.3360T>C	NP_001369713.1:p.Ala1120=
NM_001382785.1:c.3345T>C	NP_001369714.1:p.Ala1115=
NM_001382786.1:c.3324T>C	NP_001369715.1:p.Ala1108=
NM_001382787.1:c.3318T>C	NP_001369716.1:p.Ala1106=
NM_001382788.1:c.3273T>C	NP_001369717.1:p.Ala1091=
NM_001382789.1:c.3264T>C	NP_001369718.1:p.Ala1088=
NM_001382790.1:c.3240T>C	NP_001369719.1:p.Ala1080=
NM_001382791.1:c.3234T>C	NP_001369720.1:p.Ala1078=
NM_001382792.1:c.3207T>C	NP_001369721.1:p.Ala1069=
NM_001382793.1:c.3201T>C	NP_001369722.1:p.Ala1067=
NM_001382794.1:c.3201T>C	NP_001369723.1:p.Ala1067=
NM_001382795.1:c.3195T>C	NP_001369724.1:p.Ala1065=
NM_001382796.1:c.3156T>C	NP_001369725.1:p.Ala1052=
NM_001382797.1:c.3144T>C	NP_001369726.1:p.Ala1048=
NM_001382798.1:c.3087T>C	NP_001369727.1:p.Ala1029=
NM_001382799.1:c.3063T>C	NP_001369728.1:p.Ala1021=
NM_001382800.1:c.3057T>C	NP_001369729.1:p.Ala1019=
NM_001382801.1:c.3039T>C	NP_001369730.1:p.Ala1013=
NM_001382802.1:c.2985T>C	NP_001369731.1:p.Ala995=
NM_001382803.1:c.3118-311T>C	NP_001369732.1:n.3118-311T>C
NM_001382804.1:c.2415T>C	NP_001369733.1:p.Ala805=
NM_001382805.1:c.2292T>C	NP_001369734.1:p.Ala764=
NM_001382806.1:c.2205T>C	NP_001369735.1:p.Ala735=
NM_004448.4:c.3243T>C MANE Select	NP_004439.2:p.Ala1081=
NR_110535.2:n.3481T>C