Canonical Allele Identifier: CA2573142219

Gene: EGFR EGFR-AS1

Linked Data

• ClinVar Variation Id: 1444704
• ClinVar RCV Id: RCV001992419
• dbSNP Id: rs2128958231

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.55181298del , CM000669.2:g.55181298del	GRCh38
NC_000007.13:g.55248991del , CM000669.1:g.55248991del	GRCh37
NC_000007.12:g.55216485del	NCBI36
NG_007726.3:g.167267del , LRG_304:g.167267del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450046.2:c.2130del (EGFR)	ENSP00000413354.2:p.Tyr711ThrfsTer2
ENST00000700145.1:c.638del (EGFR)
ENST00000275493.7:c.2289del (EGFR) MANE Select	ENSP00000275493.2:p.Tyr764ThrfsTer2
ENST00000275493.6:c.2289del (EGFR)	ENSP00000275493.2:p.Tyr764ThrfsTer2
ENST00000442591.5:c.*28+8370del (EGFR)	ENSP00000410031.1:n.*28+8370del
ENST00000454757.6:c.2154del (EGFR)	ENSP00000395243.3:p.Tyr719ThrfsTer2
ENST00000455089.5:c.2154del (EGFR)	ENSP00000415559.1:p.Tyr719ThrfsTer2
NM_005228.3:c.2289del , LRG_304t1:c.2289del (EGFR)	NP_005219.2:p.Tyr764ThrfsTer2
NR_047551.1:n.1274del (EGFR-AS1)
NM_001346897.1:c.2154del (EGFR)	NP_001333826.1:p.Tyr719ThrfsTer2
NM_001346898.1:c.2289del (EGFR)	NP_001333827.1:p.Tyr764ThrfsTer2
NM_001346899.1:c.2154del (EGFR)	NP_001333828.1:p.Tyr719ThrfsTer2
NM_001346900.1:c.2130del (EGFR)	NP_001333829.1:p.Tyr711ThrfsTer2
NM_001346941.1:c.1488del (EGFR)	NP_001333870.1:p.Tyr497ThrfsTer2
NM_005228.4:c.2289del (EGFR)	NP_005219.2:p.Tyr764ThrfsTer2
NM_005228.5:c.2289del (EGFR) MANE Select	NP_005219.2:p.Tyr764ThrfsTer2
NM_001346897.2:c.2154del (EGFR)	NP_001333826.1:p.Tyr719ThrfsTer2
NM_001346898.2:c.2289del (EGFR)	NP_001333827.1:p.Tyr764ThrfsTer2
NM_001346900.2:c.2130del (EGFR)	NP_001333829.1:p.Tyr711ThrfsTer2
NM_001346941.2:c.1488del (EGFR)	NP_001333870.1:p.Tyr497ThrfsTer2
NM_001346899.2:c.2154del (EGFR)	NP_001333828.1:p.Tyr719ThrfsTer2