Canonical Allele Identifier: CA399314154

Gene: ERBB2

Linked Data

• dbSNP Id: rs2143310710
• MyVariant Identifiers: chr17:g.37884166T>C (hg19) ; chr17:g.39727913T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727913T>C , CM000679.2:g.39727913T>C	GRCh38
NC_000017.10:g.37884166T>C , CM000679.1:g.37884166T>C	GRCh37
NC_000017.9:g.35137692T>C	NCBI36
NG_007503.1:g.44774T>C , LRG_724:g.44774T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3637T>C MANE Select	ENSP00000269571.4:p.Phe1213Leu
ENST00000269571.9:c.3637T>C	ENSP00000269571.4:p.Phe1213Leu
ENST00000406381.6:c.3547T>C	ENSP00000385185.2:p.Phe1183Leu
ENST00000445658.6:c.2809T>C	ENSP00000404047.2:p.Phe937Leu
ENST00000541774.5:c.3592T>C	ENSP00000446466.1:p.Phe1198Leu
ENST00000578373.5:c.*3427T>C	ENSP00000463427.1:n.*3427T>C
ENST00000584450.5:c.*216T>C	ENSP00000463714.1:n.*216T>C
ENST00000584601.5:c.3547T>C	ENSP00000462438.1:p.Phe1183Leu
NM_001005862.2:c.3547T>C , LRG_724t1:c.3547T>C	NP_001005862.1:p.Phe1183Leu
NM_001289936.1:c.3592T>C , LRG_724t4:c.3592T>C	NP_001276865.1:p.Phe1198Leu
NM_001289937.1:c.*216T>C	NP_001276866.1:n.*216T>C
NM_004448.3:c.3637T>C , LRG_724t2:c.3637T>C	NP_004439.2:p.Phe1213Leu
NR_110535.1:n.3961T>C
XM_024450641.1:c.3775T>C	XP_024306409.1:p.Phe1259Leu
XM_024450642.1:c.3730T>C	XP_024306410.1:p.Phe1244Leu
XM_024450643.1:c.3685T>C	XP_024306411.1:p.Phe1229Leu
NM_001005862.3:c.3547T>C	NP_001005862.1:p.Phe1183Leu
NM_001289936.2:c.3592T>C	NP_001276865.1:p.Phe1198Leu
NM_001289937.2:c.*216T>C	NP_001276866.1:n.*216T>C
NM_001382782.1:c.3547T>C	NP_001369711.1:p.Phe1183Leu
NM_001382783.1:c.3547T>C	NP_001369712.1:p.Phe1183Leu
NM_001382784.1:c.3754T>C	NP_001369713.1:p.Phe1252Leu
NM_001382785.1:c.3739T>C	NP_001369714.1:p.Phe1247Leu
NM_001382786.1:c.3718T>C	NP_001369715.1:p.Phe1240Leu
NM_001382787.1:c.3712T>C	NP_001369716.1:p.Phe1238Leu
NM_001382788.1:c.3667T>C	NP_001369717.1:p.Phe1223Leu
NM_001382789.1:c.3658T>C	NP_001369718.1:p.Phe1220Leu
NM_001382790.1:c.3634T>C	NP_001369719.1:p.Phe1212Leu
NM_001382791.1:c.3628T>C	NP_001369720.1:p.Phe1210Leu
NM_001382792.1:c.3601T>C	NP_001369721.1:p.Phe1201Leu
NM_001382793.1:c.3595T>C	NP_001369722.1:p.Phe1199Leu
NM_001382794.1:c.3595T>C	NP_001369723.1:p.Phe1199Leu
NM_001382795.1:c.3589T>C	NP_001369724.1:p.Phe1197Leu
NM_001382796.1:c.3550T>C	NP_001369725.1:p.Phe1184Leu
NM_001382797.1:c.3538T>C	NP_001369726.1:p.Phe1180Leu
NM_001382798.1:c.3481T>C	NP_001369727.1:p.Phe1161Leu
NM_001382799.1:c.3457T>C	NP_001369728.1:p.Phe1153Leu
NM_001382800.1:c.3451T>C	NP_001369729.1:p.Phe1151Leu
NM_001382801.1:c.3433T>C	NP_001369730.1:p.Phe1145Leu
NM_001382802.1:c.3379T>C	NP_001369731.1:p.Phe1127Leu
NM_001382803.1:c.*216T>C	NP_001369732.1:n.*216T>C
NM_001382804.1:c.2809T>C	NP_001369733.1:p.Phe937Leu
NM_001382805.1:c.2686T>C	NP_001369734.1:p.Phe896Leu
NM_001382806.1:c.2599T>C	NP_001369735.1:p.Phe867Leu
NM_004448.4:c.3637T>C MANE Select	NP_004439.2:p.Phe1213Leu
NR_110535.2:n.3875T>C