Canonical Allele Identifier: CA135968
Community Standard Title: NM_005228.5(EGFR):c.2862C>T (p.Asp954=)
Gene: EGFR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55200329C>T , CM000669.2:g.55200329C>T GRCh38
NC_000007.13:g.55268022C>T , CM000669.1:g.55268022C>T GRCh37
NC_000007.12:g.55235516C>T NCBI36
NG_007726.3:g.186298C>T , LRG_304:g.186298C>T

Transcript Alleles

HGVS Amino-acid Change
NM_005228.5:c.2862C>T MANE Select NP_005219.2:p.Asp954=
ENST00000275493.7:c.2862C>T MANE Select ENSP00000275493.2:p.Asp954=
NM_001346897.1:c.2727C>T NP_001333826.1:p.Asp909=
NM_001346897.2:c.2727C>T NP_001333826.1:p.Asp909=
NM_001346898.1:c.2862C>T NP_001333827.1:p.Asp954=
NM_001346898.2:c.2862C>T NP_001333827.1:p.Asp954=
NM_001346899.1:c.2727C>T NP_001333828.1:p.Asp909=
NM_001346899.2:c.2727C>T NP_001333828.1:p.Asp909=
NM_001346900.1:c.2703C>T NP_001333829.1:p.Asp901=
NM_001346900.2:c.2703C>T NP_001333829.1:p.Asp901=
NM_001346941.1:c.2061C>T NP_001333870.1:p.Asp687=
NM_001346941.2:c.2061C>T NP_001333870.1:p.Asp687=
NM_005228.3:c.2862C>T , LRG_304t1:c.2862C>T NP_005219.2:p.Asp954=
NM_005228.4:c.2862C>T NP_005219.2:p.Asp954=
ENST00000275493.6:c.2862C>T ENSP00000275493.2:p.Asp954=
ENST00000442591.5:c.*28+27401C>T ENSP00000410031.1:n.*28+27401C>T
ENST00000450046.2:c.2703C>T ENSP00000413354.2:p.Asp901=
ENST00000454757.6:c.2727C>T ENSP00000395243.3:p.Asp909=
ENST00000455089.5:c.2727C>T ENSP00000415559.1:p.Asp909=
ENST00000485503.1:n.192C>T
ENST00000700145.1:c.900-5018C>T
ENST00000700146.1:n.606C>T