Canonical Allele Identifier: CA399313825

Gene: ERBB2

Linked Data

• dbSNP Id: rs2143305666
• MyVariant Identifiers: chr17:g.37884120G>C (hg19) ; chr17:g.39727867G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727867G>C , CM000679.2:g.39727867G>C	GRCh38
NC_000017.10:g.37884120G>C , CM000679.1:g.37884120G>C	GRCh37
NC_000017.9:g.35137646G>C	NCBI36
NG_007503.1:g.44728G>C , LRG_724:g.44728G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3591G>C MANE Select	ENSP00000269571.4:p.Leu1197Phe
ENST00000269571.9:c.3591G>C	ENSP00000269571.4:p.Leu1197Phe
ENST00000406381.6:c.3501G>C	ENSP00000385185.2:p.Leu1167Phe
ENST00000445658.6:c.2763G>C	ENSP00000404047.2:p.Leu921Phe
ENST00000541774.5:c.3546G>C	ENSP00000446466.1:p.Leu1182Phe
ENST00000578373.5:c.*3381G>C	ENSP00000463427.1:n.*3381G>C
ENST00000584450.5:c.*170G>C	ENSP00000463714.1:n.*170G>C
ENST00000584601.5:c.3501G>C	ENSP00000462438.1:p.Leu1167Phe
NM_001005862.2:c.3501G>C , LRG_724t1:c.3501G>C	NP_001005862.1:p.Leu1167Phe
NM_001289936.1:c.3546G>C , LRG_724t4:c.3546G>C	NP_001276865.1:p.Leu1182Phe
NM_001289937.1:c.*170G>C	NP_001276866.1:n.*170G>C
NM_004448.3:c.3591G>C , LRG_724t2:c.3591G>C	NP_004439.2:p.Leu1197Phe
NR_110535.1:n.3915G>C
XM_024450641.1:c.3729G>C	XP_024306409.1:p.Leu1243Phe
XM_024450642.1:c.3684G>C	XP_024306410.1:p.Leu1228Phe
XM_024450643.1:c.3639G>C	XP_024306411.1:p.Leu1213Phe
NM_001005862.3:c.3501G>C	NP_001005862.1:p.Leu1167Phe
NM_001289936.2:c.3546G>C	NP_001276865.1:p.Leu1182Phe
NM_001289937.2:c.*170G>C	NP_001276866.1:n.*170G>C
NM_001382782.1:c.3501G>C	NP_001369711.1:p.Leu1167Phe
NM_001382783.1:c.3501G>C	NP_001369712.1:p.Leu1167Phe
NM_001382784.1:c.3708G>C	NP_001369713.1:p.Leu1236Phe
NM_001382785.1:c.3693G>C	NP_001369714.1:p.Leu1231Phe
NM_001382786.1:c.3672G>C	NP_001369715.1:p.Leu1224Phe
NM_001382787.1:c.3666G>C	NP_001369716.1:p.Leu1222Phe
NM_001382788.1:c.3621G>C	NP_001369717.1:p.Leu1207Phe
NM_001382789.1:c.3612G>C	NP_001369718.1:p.Leu1204Phe
NM_001382790.1:c.3588G>C	NP_001369719.1:p.Leu1196Phe
NM_001382791.1:c.3582G>C	NP_001369720.1:p.Leu1194Phe
NM_001382792.1:c.3555G>C	NP_001369721.1:p.Leu1185Phe
NM_001382793.1:c.3549G>C	NP_001369722.1:p.Leu1183Phe
NM_001382794.1:c.3549G>C	NP_001369723.1:p.Leu1183Phe
NM_001382795.1:c.3543G>C	NP_001369724.1:p.Leu1181Phe
NM_001382796.1:c.3504G>C	NP_001369725.1:p.Leu1168Phe
NM_001382797.1:c.3492G>C	NP_001369726.1:p.Leu1164Phe
NM_001382798.1:c.3435G>C	NP_001369727.1:p.Leu1145Phe
NM_001382799.1:c.3411G>C	NP_001369728.1:p.Leu1137Phe
NM_001382800.1:c.3405G>C	NP_001369729.1:p.Leu1135Phe
NM_001382801.1:c.3387G>C	NP_001369730.1:p.Leu1129Phe
NM_001382802.1:c.3333G>C	NP_001369731.1:p.Leu1111Phe
NM_001382803.1:c.*170G>C	NP_001369732.1:n.*170G>C
NM_001382804.1:c.2763G>C	NP_001369733.1:p.Leu921Phe
NM_001382805.1:c.2640G>C	NP_001369734.1:p.Leu880Phe
NM_001382806.1:c.2553G>C	NP_001369735.1:p.Leu851Phe
NM_004448.4:c.3591G>C MANE Select	NP_004439.2:p.Leu1197Phe
NR_110535.2:n.3829G>C