Canonical Allele Identifier: CA367580090
Community Standard Title: NM_005228.5(EGFR):c.2482T>G (p.Leu828Val)
Gene: EGFR HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55191731T>G , CM000669.2:g.55191731T>G GRCh38
NC_000007.13:g.55259424T>G , CM000669.1:g.55259424T>G GRCh37
NC_000007.12:g.55226918T>G NCBI36
NG_007726.3:g.177700T>G , LRG_304:g.177700T>G

Transcript Alleles

HGVS Amino-acid Change
NM_005228.5:c.2482T>G MANE Select NP_005219.2:p.Leu828Val
ENST00000275493.7:c.2482T>G MANE Select ENSP00000275493.2:p.Leu828Val
NM_001346897.1:c.2347T>G NP_001333826.1:p.Leu783Val
NM_001346897.2:c.2347T>G NP_001333826.1:p.Leu783Val
NM_001346898.1:c.2482T>G NP_001333827.1:p.Leu828Val
NM_001346898.2:c.2482T>G NP_001333827.1:p.Leu828Val
NM_001346899.1:c.2347T>G NP_001333828.1:p.Leu783Val
NM_001346899.2:c.2347T>G NP_001333828.1:p.Leu783Val
NM_001346900.1:c.2323T>G NP_001333829.1:p.Leu775Val
NM_001346900.2:c.2323T>G NP_001333829.1:p.Leu775Val
NM_001346941.1:c.1681T>G NP_001333870.1:p.Leu561Val
NM_001346941.2:c.1681T>G NP_001333870.1:p.Leu561Val
NM_005228.3:c.2482T>G , LRG_304t1:c.2482T>G NP_005219.2:p.Leu828Val
NM_005228.4:c.2482T>G NP_005219.2:p.Leu828Val
ENST00000275493.6:c.2482T>G ENSP00000275493.2:p.Leu828Val
ENST00000442591.5:c.*28+18803T>G ENSP00000410031.1:n.*28+18803T>G
ENST00000450046.2:c.2323T>G ENSP00000413354.2:p.Leu775Val
ENST00000454757.6:c.2347T>G ENSP00000395243.3:p.Leu783Val
ENST00000455089.5:c.2347T>G ENSP00000415559.1:p.Leu783Val
ENST00000700145.1:c.831T>G
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