Canonical Allele Identifier: CA3149798171
Community Standard Title: NM_005228.5(EGFR):c.2470-56G=
Gene: EGFR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55191663G= , CM000669.2:g.55191663G= GRCh38
NC_000007.13:g.55259356G= , CM000669.1:g.55259356G= GRCh37
NC_000007.12:g.55226850G= NCBI36
NG_007726.3:g.177632G= , LRG_304:g.177632G=

Transcript Alleles

HGVS Amino-acid Change
NM_005228.5:c.2470-56G= MANE Select NP_005219.2:n.2470-56G=
ENST00000275493.7:c.2470-56G= MANE Select ENSP00000275493.2:n.2470-56G=
NM_001346897.1:c.2335-56G= NP_001333826.1:n.2335-56G=
NM_001346897.2:c.2335-56G= NP_001333826.1:n.2335-56G=
NM_001346898.1:c.2470-56G= NP_001333827.1:n.2470-56G=
NM_001346898.2:c.2470-56G= NP_001333827.1:n.2470-56G=
NM_001346899.1:c.2335-56G= NP_001333828.1:n.2335-56G=
NM_001346899.2:c.2335-56G= NP_001333828.1:n.2335-56G=
NM_001346900.1:c.2311-56G= NP_001333829.1:n.2311-56G=
NM_001346900.2:c.2311-56G= NP_001333829.1:n.2311-56G=
NM_001346941.1:c.1669-56G= NP_001333870.1:n.1669-56G=
NM_001346941.2:c.1669-56G= NP_001333870.1:n.1669-56G=
NM_005228.3:c.2470-56G= , LRG_304t1:c.2470-56G= NP_005219.2:n.2470-56G=
NM_005228.4:c.2470-56G= NP_005219.2:n.2470-56G=
ENST00000275493.6:c.2470-56G= ENSP00000275493.2:n.2470-56G=
ENST00000442591.5:c.*28+18735G= ENSP00000410031.1:n.*28+18735G=
ENST00000450046.2:c.2311-56G= ENSP00000413354.2:n.2311-56G=
ENST00000454757.6:c.2335-56G= ENSP00000395243.3:n.2335-56G=
ENST00000455089.5:c.2335-56G= ENSP00000415559.1:n.2335-56G=
ENST00000700145.1:c.819-56G=