Canonical Allele Identifier: CA8534560

Gene: ERBB2

Linked Data

• ClinVar Variation Id: 1060897
• ClinVar RCV Id: RCV001370394
• dbSNP Id: rs762062043
• ExAC: 17:37883965 C / T
• gnomAD v2: 17-37883965-C-T
• gnomAD v3: 17-39727712-C-T
• gnomAD v4: 17-39727712-C-T
• COSMIC: COSM2838183
• MyVariant Identifiers: chr17:g.37883965C>T (hg19) ; chr17:g.39727712C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727712C>T , CM000679.2:g.39727712C>T	GRCh38
NC_000017.10:g.37883965C>T , CM000679.1:g.37883965C>T	GRCh37
NC_000017.9:g.35137491C>T	NCBI36
NG_007503.1:g.44573C>T , LRG_724:g.44573C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3436C>T MANE Select	ENSP00000269571.4:p.Arg1146Trp
ENST00000269571.9:c.3436C>T	ENSP00000269571.4:p.Arg1146Trp
ENST00000406381.6:c.3346C>T	ENSP00000385185.2:p.Arg1116Trp
ENST00000445658.6:c.2608C>T	ENSP00000404047.2:p.Arg870Trp
ENST00000541774.5:c.3391C>T	ENSP00000446466.1:p.Arg1131Trp
ENST00000578373.5:c.*3226C>T	ENSP00000463427.1:n.*3226C>T
ENST00000584450.5:c.*15C>T	ENSP00000463714.1:n.*15C>T
ENST00000584601.5:c.3346C>T	ENSP00000462438.1:p.Arg1116Trp
NM_001005862.2:c.3346C>T , LRG_724t1:c.3346C>T	NP_001005862.1:p.Arg1116Trp
NM_001289936.1:c.3391C>T , LRG_724t4:c.3391C>T	NP_001276865.1:p.Arg1131Trp
NM_001289937.1:c.*15C>T	NP_001276866.1:n.*15C>T
NM_004448.3:c.3436C>T , LRG_724t2:c.3436C>T	NP_004439.2:p.Arg1146Trp
NR_110535.1:n.3760C>T
XM_024450641.1:c.3574C>T	XP_024306409.1:p.Arg1192Trp
XM_024450642.1:c.3529C>T	XP_024306410.1:p.Arg1177Trp
XM_024450643.1:c.3484C>T	XP_024306411.1:p.Arg1162Trp
NM_001005862.3:c.3346C>T	NP_001005862.1:p.Arg1116Trp
NM_001289936.2:c.3391C>T	NP_001276865.1:p.Arg1131Trp
NM_001289937.2:c.*15C>T	NP_001276866.1:n.*15C>T
NM_001382782.1:c.3346C>T	NP_001369711.1:p.Arg1116Trp
NM_001382783.1:c.3346C>T	NP_001369712.1:p.Arg1116Trp
NM_001382784.1:c.3553C>T	NP_001369713.1:p.Arg1185Trp
NM_001382785.1:c.3538C>T	NP_001369714.1:p.Arg1180Trp
NM_001382786.1:c.3517C>T	NP_001369715.1:p.Arg1173Trp
NM_001382787.1:c.3511C>T	NP_001369716.1:p.Arg1171Trp
NM_001382788.1:c.3466C>T	NP_001369717.1:p.Arg1156Trp
NM_001382789.1:c.3457C>T	NP_001369718.1:p.Arg1153Trp
NM_001382790.1:c.3433C>T	NP_001369719.1:p.Arg1145Trp
NM_001382791.1:c.3427C>T	NP_001369720.1:p.Arg1143Trp
NM_001382792.1:c.3400C>T	NP_001369721.1:p.Arg1134Trp
NM_001382793.1:c.3394C>T	NP_001369722.1:p.Arg1132Trp
NM_001382794.1:c.3394C>T	NP_001369723.1:p.Arg1132Trp
NM_001382795.1:c.3388C>T	NP_001369724.1:p.Arg1130Trp
NM_001382796.1:c.3349C>T	NP_001369725.1:p.Arg1117Trp
NM_001382797.1:c.3337C>T	NP_001369726.1:p.Arg1113Trp
NM_001382798.1:c.3280C>T	NP_001369727.1:p.Arg1094Trp
NM_001382799.1:c.3256C>T	NP_001369728.1:p.Arg1086Trp
NM_001382800.1:c.3250C>T	NP_001369729.1:p.Arg1084Trp
NM_001382801.1:c.3232C>T	NP_001369730.1:p.Arg1078Trp
NM_001382802.1:c.3178C>T	NP_001369731.1:p.Arg1060Trp
NM_001382803.1:c.*15C>T	NP_001369732.1:n.*15C>T
NM_001382804.1:c.2608C>T	NP_001369733.1:p.Arg870Trp
NM_001382805.1:c.2485C>T	NP_001369734.1:p.Arg829Trp
NM_001382806.1:c.2398C>T	NP_001369735.1:p.Arg800Trp
NM_004448.4:c.3436C>T MANE Select	NP_004439.2:p.Arg1146Trp
NR_110535.2:n.3674C>T