Canonical Allele Identifier: CA399312657

Gene: ERBB2

Linked Data

• dbSNP Id: rs2143254628
• MyVariant Identifiers: chr17:g.37883747T>A (hg19) ; chr17:g.39727494T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727494T>A , CM000679.2:g.39727494T>A	GRCh38
NC_000017.10:g.37883747T>A , CM000679.1:g.37883747T>A	GRCh37
NC_000017.9:g.35137273T>A	NCBI36
NG_007503.1:g.44355T>A , LRG_724:g.44355T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3359T>A MANE Select	ENSP00000269571.4:p.Leu1120Gln
ENST00000269571.9:c.3359T>A	ENSP00000269571.4:p.Leu1120Gln
ENST00000406381.6:c.3269T>A	ENSP00000385185.2:p.Leu1090Gln
ENST00000445658.6:c.2531T>A	ENSP00000404047.2:p.Leu844Gln
ENST00000541774.5:c.3314T>A	ENSP00000446466.1:p.Leu1105Gln
ENST00000578373.5:c.*3149T>A	ENSP00000463427.1:n.*3149T>A
ENST00000584450.5:c.3160-195T>A	ENSP00000463714.1:n.3160-195T>A
ENST00000584601.5:c.3269T>A	ENSP00000462438.1:p.Leu1090Gln
NM_001005862.2:c.3269T>A , LRG_724t1:c.3269T>A	NP_001005862.1:p.Leu1090Gln
NM_001289936.1:c.3314T>A , LRG_724t4:c.3314T>A	NP_001276865.1:p.Leu1105Gln
NM_001289937.1:c.3160-195T>A	NP_001276866.1:n.3160-195T>A
NM_004448.3:c.3359T>A , LRG_724t2:c.3359T>A	NP_004439.2:p.Leu1120Gln
NR_110535.1:n.3683T>A
XM_024450641.1:c.3497T>A	XP_024306409.1:p.Leu1166Gln
XM_024450642.1:c.3452T>A	XP_024306410.1:p.Leu1151Gln
XM_024450643.1:c.3407T>A	XP_024306411.1:p.Leu1136Gln
NM_001005862.3:c.3269T>A	NP_001005862.1:p.Leu1090Gln
NM_001289936.2:c.3314T>A	NP_001276865.1:p.Leu1105Gln
NM_001289937.2:c.3160-195T>A	NP_001276866.1:n.3160-195T>A
NM_001382782.1:c.3269T>A	NP_001369711.1:p.Leu1090Gln
NM_001382783.1:c.3269T>A	NP_001369712.1:p.Leu1090Gln
NM_001382784.1:c.3476T>A	NP_001369713.1:p.Leu1159Gln
NM_001382785.1:c.3461T>A	NP_001369714.1:p.Leu1154Gln
NM_001382786.1:c.3440T>A	NP_001369715.1:p.Leu1147Gln
NM_001382787.1:c.3434T>A	NP_001369716.1:p.Leu1145Gln
NM_001382788.1:c.3389T>A	NP_001369717.1:p.Leu1130Gln
NM_001382789.1:c.3380T>A	NP_001369718.1:p.Leu1127Gln
NM_001382790.1:c.3356T>A	NP_001369719.1:p.Leu1119Gln
NM_001382791.1:c.3350T>A	NP_001369720.1:p.Leu1117Gln
NM_001382792.1:c.3323T>A	NP_001369721.1:p.Leu1108Gln
NM_001382793.1:c.3317T>A	NP_001369722.1:p.Leu1106Gln
NM_001382794.1:c.3317T>A	NP_001369723.1:p.Leu1106Gln
NM_001382795.1:c.3311T>A	NP_001369724.1:p.Leu1104Gln
NM_001382796.1:c.3272T>A	NP_001369725.1:p.Leu1091Gln
NM_001382797.1:c.3260T>A	NP_001369726.1:p.Leu1087Gln
NM_001382798.1:c.3203T>A	NP_001369727.1:p.Leu1068Gln
NM_001382799.1:c.3179T>A	NP_001369728.1:p.Leu1060Gln
NM_001382800.1:c.3173T>A	NP_001369729.1:p.Leu1058Gln
NM_001382801.1:c.3155T>A	NP_001369730.1:p.Leu1052Gln
NM_001382802.1:c.3101T>A	NP_001369731.1:p.Leu1034Gln
NM_001382803.1:c.3118-195T>A	NP_001369732.1:n.3118-195T>A
NM_001382804.1:c.2531T>A	NP_001369733.1:p.Leu844Gln
NM_001382805.1:c.2408T>A	NP_001369734.1:p.Leu803Gln
NM_001382806.1:c.2321T>A	NP_001369735.1:p.Leu774Gln
NM_004448.4:c.3359T>A MANE Select	NP_004439.2:p.Leu1120Gln
NR_110535.2:n.3597T>A