Canonical Allele Identifier: CA399313266

Gene: ERBB2

Linked Data

• dbSNP Id: rs1455904690
• gnomAD v2: 17-37884046-C-T
• gnomAD v4: 17-39727793-C-T
• MyVariant Identifiers: chr17:g.37884046C>T (hg19) ; chr17:g.39727793C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727793C>T , CM000679.2:g.39727793C>T	GRCh38
NC_000017.10:g.37884046C>T , CM000679.1:g.37884046C>T	GRCh37
NC_000017.9:g.35137572C>T	NCBI36
NG_007503.1:g.44654C>T , LRG_724:g.44654C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000269571.10:c.3517C>T MANE Select	ENSP00000269571.4:p.Leu1173Phe
ENST00000269571.9:c.3517C>T	ENSP00000269571.4:p.Leu1173Phe
ENST00000406381.6:c.3427C>T	ENSP00000385185.2:p.Leu1143Phe
ENST00000445658.6:c.2689C>T	ENSP00000404047.2:p.Leu897Phe
ENST00000541774.5:c.3472C>T	ENSP00000446466.1:p.Leu1158Phe
ENST00000578373.5:c.*3307C>T	ENSP00000463427.1:n.*3307C>T
ENST00000584450.5:c.*96C>T	ENSP00000463714.1:n.*96C>T
ENST00000584601.5:c.3427C>T	ENSP00000462438.1:p.Leu1143Phe
NM_001005862.2:c.3427C>T , LRG_724t1:c.3427C>T	NP_001005862.1:p.Leu1143Phe
NM_001289936.1:c.3472C>T , LRG_724t4:c.3472C>T	NP_001276865.1:p.Leu1158Phe
NM_001289937.1:c.*96C>T	NP_001276866.1:n.*96C>T
NM_004448.3:c.3517C>T , LRG_724t2:c.3517C>T	NP_004439.2:p.Leu1173Phe
NR_110535.1:n.3841C>T
XM_024450641.1:c.3655C>T	XP_024306409.1:p.Leu1219Phe
XM_024450642.1:c.3610C>T	XP_024306410.1:p.Leu1204Phe
XM_024450643.1:c.3565C>T	XP_024306411.1:p.Leu1189Phe
NM_001005862.3:c.3427C>T	NP_001005862.1:p.Leu1143Phe
NM_001289936.2:c.3472C>T	NP_001276865.1:p.Leu1158Phe
NM_001289937.2:c.*96C>T	NP_001276866.1:n.*96C>T
NM_001382782.1:c.3427C>T	NP_001369711.1:p.Leu1143Phe
NM_001382783.1:c.3427C>T	NP_001369712.1:p.Leu1143Phe
NM_001382784.1:c.3634C>T	NP_001369713.1:p.Leu1212Phe
NM_001382785.1:c.3619C>T	NP_001369714.1:p.Leu1207Phe
NM_001382786.1:c.3598C>T	NP_001369715.1:p.Leu1200Phe
NM_001382787.1:c.3592C>T	NP_001369716.1:p.Leu1198Phe
NM_001382788.1:c.3547C>T	NP_001369717.1:p.Leu1183Phe
NM_001382789.1:c.3538C>T	NP_001369718.1:p.Leu1180Phe
NM_001382790.1:c.3514C>T	NP_001369719.1:p.Leu1172Phe
NM_001382791.1:c.3508C>T	NP_001369720.1:p.Leu1170Phe
NM_001382792.1:c.3481C>T	NP_001369721.1:p.Leu1161Phe
NM_001382793.1:c.3475C>T	NP_001369722.1:p.Leu1159Phe
NM_001382794.1:c.3475C>T	NP_001369723.1:p.Leu1159Phe
NM_001382795.1:c.3469C>T	NP_001369724.1:p.Leu1157Phe
NM_001382796.1:c.3430C>T	NP_001369725.1:p.Leu1144Phe
NM_001382797.1:c.3418C>T	NP_001369726.1:p.Leu1140Phe
NM_001382798.1:c.3361C>T	NP_001369727.1:p.Leu1121Phe
NM_001382799.1:c.3337C>T	NP_001369728.1:p.Leu1113Phe
NM_001382800.1:c.3331C>T	NP_001369729.1:p.Leu1111Phe
NM_001382801.1:c.3313C>T	NP_001369730.1:p.Leu1105Phe
NM_001382802.1:c.3259C>T	NP_001369731.1:p.Leu1087Phe
NM_001382803.1:c.*96C>T	NP_001369732.1:n.*96C>T
NM_001382804.1:c.2689C>T	NP_001369733.1:p.Leu897Phe
NM_001382805.1:c.2566C>T	NP_001369734.1:p.Leu856Phe
NM_001382806.1:c.2479C>T	NP_001369735.1:p.Leu827Phe
NM_004448.4:c.3517C>T MANE Select	NP_004439.2:p.Leu1173Phe
NR_110535.2:n.3755C>T