Canonical Allele Identifier: CA399312884

Gene: ERBB2

Linked Data

• dbSNP Id: rs2143289386
• MyVariant Identifiers: chr17:g.37883972A>T (hg19) ; chr17:g.39727719A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727719A>T , CM000679.2:g.39727719A>T	GRCh38
NC_000017.10:g.37883972A>T , CM000679.1:g.37883972A>T	GRCh37
NC_000017.9:g.35137498A>T	NCBI36
NG_007503.1:g.44580A>T , LRG_724:g.44580A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3443A>T MANE Select	ENSP00000269571.4:p.Gln1148Leu
ENST00000269571.9:c.3443A>T	ENSP00000269571.4:p.Gln1148Leu
ENST00000406381.6:c.3353A>T	ENSP00000385185.2:p.Gln1118Leu
ENST00000445658.6:c.2615A>T	ENSP00000404047.2:p.Gln872Leu
ENST00000541774.5:c.3398A>T	ENSP00000446466.1:p.Gln1133Leu
ENST00000578373.5:c.*3233A>T	ENSP00000463427.1:n.*3233A>T
ENST00000584450.5:c.*22A>T	ENSP00000463714.1:n.*22A>T
ENST00000584601.5:c.3353A>T	ENSP00000462438.1:p.Gln1118Leu
NM_001005862.2:c.3353A>T , LRG_724t1:c.3353A>T	NP_001005862.1:p.Gln1118Leu
NM_001289936.1:c.3398A>T , LRG_724t4:c.3398A>T	NP_001276865.1:p.Gln1133Leu
NM_001289937.1:c.*22A>T	NP_001276866.1:n.*22A>T
NM_004448.3:c.3443A>T , LRG_724t2:c.3443A>T	NP_004439.2:p.Gln1148Leu
NR_110535.1:n.3767A>T
XM_024450641.1:c.3581A>T	XP_024306409.1:p.Gln1194Leu
XM_024450642.1:c.3536A>T	XP_024306410.1:p.Gln1179Leu
XM_024450643.1:c.3491A>T	XP_024306411.1:p.Gln1164Leu
NM_001005862.3:c.3353A>T	NP_001005862.1:p.Gln1118Leu
NM_001289936.2:c.3398A>T	NP_001276865.1:p.Gln1133Leu
NM_001289937.2:c.*22A>T	NP_001276866.1:n.*22A>T
NM_001382782.1:c.3353A>T	NP_001369711.1:p.Gln1118Leu
NM_001382783.1:c.3353A>T	NP_001369712.1:p.Gln1118Leu
NM_001382784.1:c.3560A>T	NP_001369713.1:p.Gln1187Leu
NM_001382785.1:c.3545A>T	NP_001369714.1:p.Gln1182Leu
NM_001382786.1:c.3524A>T	NP_001369715.1:p.Gln1175Leu
NM_001382787.1:c.3518A>T	NP_001369716.1:p.Gln1173Leu
NM_001382788.1:c.3473A>T	NP_001369717.1:p.Gln1158Leu
NM_001382789.1:c.3464A>T	NP_001369718.1:p.Gln1155Leu
NM_001382790.1:c.3440A>T	NP_001369719.1:p.Gln1147Leu
NM_001382791.1:c.3434A>T	NP_001369720.1:p.Gln1145Leu
NM_001382792.1:c.3407A>T	NP_001369721.1:p.Gln1136Leu
NM_001382793.1:c.3401A>T	NP_001369722.1:p.Gln1134Leu
NM_001382794.1:c.3401A>T	NP_001369723.1:p.Gln1134Leu
NM_001382795.1:c.3395A>T	NP_001369724.1:p.Gln1132Leu
NM_001382796.1:c.3356A>T	NP_001369725.1:p.Gln1119Leu
NM_001382797.1:c.3344A>T	NP_001369726.1:p.Gln1115Leu
NM_001382798.1:c.3287A>T	NP_001369727.1:p.Gln1096Leu
NM_001382799.1:c.3263A>T	NP_001369728.1:p.Gln1088Leu
NM_001382800.1:c.3257A>T	NP_001369729.1:p.Gln1086Leu
NM_001382801.1:c.3239A>T	NP_001369730.1:p.Gln1080Leu
NM_001382802.1:c.3185A>T	NP_001369731.1:p.Gln1062Leu
NM_001382803.1:c.*22A>T	NP_001369732.1:n.*22A>T
NM_001382804.1:c.2615A>T	NP_001369733.1:p.Gln872Leu
NM_001382805.1:c.2492A>T	NP_001369734.1:p.Gln831Leu
NM_001382806.1:c.2405A>T	NP_001369735.1:p.Gln802Leu
NM_004448.4:c.3443A>T MANE Select	NP_004439.2:p.Gln1148Leu
NR_110535.2:n.3681A>T