Canonical Allele Identifier: CA399312633

Gene: ERBB2

Linked Data

• dbSNP Id: rs928539621
• MyVariant Identifiers: chr17:g.37883740G>C (hg19) ; chr17:g.39727487G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727487G>C , CM000679.2:g.39727487G>C	GRCh38
NC_000017.10:g.37883740G>C , CM000679.1:g.37883740G>C	GRCh37
NC_000017.9:g.35137266G>C	NCBI36
NG_007503.1:g.44348G>C , LRG_724:g.44348G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3352G>C MANE Select	ENSP00000269571.4:p.Val1118Leu
ENST00000269571.9:c.3352G>C	ENSP00000269571.4:p.Val1118Leu
ENST00000406381.6:c.3262G>C	ENSP00000385185.2:p.Val1088Leu
ENST00000445658.6:c.2524G>C	ENSP00000404047.2:p.Val842Leu
ENST00000541774.5:c.3307G>C	ENSP00000446466.1:p.Val1103Leu
ENST00000578373.5:c.*3142G>C	ENSP00000463427.1:n.*3142G>C
ENST00000584450.5:c.3160-202G>C	ENSP00000463714.1:n.3160-202G>C
ENST00000584601.5:c.3262G>C	ENSP00000462438.1:p.Val1088Leu
NM_001005862.2:c.3262G>C , LRG_724t1:c.3262G>C	NP_001005862.1:p.Val1088Leu
NM_001289936.1:c.3307G>C , LRG_724t4:c.3307G>C	NP_001276865.1:p.Val1103Leu
NM_001289937.1:c.3160-202G>C	NP_001276866.1:n.3160-202G>C
NM_004448.3:c.3352G>C , LRG_724t2:c.3352G>C	NP_004439.2:p.Val1118Leu
NR_110535.1:n.3676G>C
XM_024450641.1:c.3490G>C	XP_024306409.1:p.Val1164Leu
XM_024450642.1:c.3445G>C	XP_024306410.1:p.Val1149Leu
XM_024450643.1:c.3400G>C	XP_024306411.1:p.Val1134Leu
NM_001005862.3:c.3262G>C	NP_001005862.1:p.Val1088Leu
NM_001289936.2:c.3307G>C	NP_001276865.1:p.Val1103Leu
NM_001289937.2:c.3160-202G>C	NP_001276866.1:n.3160-202G>C
NM_001382782.1:c.3262G>C	NP_001369711.1:p.Val1088Leu
NM_001382783.1:c.3262G>C	NP_001369712.1:p.Val1088Leu
NM_001382784.1:c.3469G>C	NP_001369713.1:p.Val1157Leu
NM_001382785.1:c.3454G>C	NP_001369714.1:p.Val1152Leu
NM_001382786.1:c.3433G>C	NP_001369715.1:p.Val1145Leu
NM_001382787.1:c.3427G>C	NP_001369716.1:p.Val1143Leu
NM_001382788.1:c.3382G>C	NP_001369717.1:p.Val1128Leu
NM_001382789.1:c.3373G>C	NP_001369718.1:p.Val1125Leu
NM_001382790.1:c.3349G>C	NP_001369719.1:p.Val1117Leu
NM_001382791.1:c.3343G>C	NP_001369720.1:p.Val1115Leu
NM_001382792.1:c.3316G>C	NP_001369721.1:p.Val1106Leu
NM_001382793.1:c.3310G>C	NP_001369722.1:p.Val1104Leu
NM_001382794.1:c.3310G>C	NP_001369723.1:p.Val1104Leu
NM_001382795.1:c.3304G>C	NP_001369724.1:p.Val1102Leu
NM_001382796.1:c.3265G>C	NP_001369725.1:p.Val1089Leu
NM_001382797.1:c.3253G>C	NP_001369726.1:p.Val1085Leu
NM_001382798.1:c.3196G>C	NP_001369727.1:p.Val1066Leu
NM_001382799.1:c.3172G>C	NP_001369728.1:p.Val1058Leu
NM_001382800.1:c.3166G>C	NP_001369729.1:p.Val1056Leu
NM_001382801.1:c.3148G>C	NP_001369730.1:p.Val1050Leu
NM_001382802.1:c.3094G>C	NP_001369731.1:p.Val1032Leu
NM_001382803.1:c.3118-202G>C	NP_001369732.1:n.3118-202G>C
NM_001382804.1:c.2524G>C	NP_001369733.1:p.Val842Leu
NM_001382805.1:c.2401G>C	NP_001369734.1:p.Val801Leu
NM_001382806.1:c.2314G>C	NP_001369735.1:p.Val772Leu
NM_004448.4:c.3352G>C MANE Select	NP_004439.2:p.Val1118Leu
NR_110535.2:n.3590G>C