Canonical Allele Identifier: CA2374819739
Community Standard Title: NM_001958.5(EEF1A2):c.1309G= (p.Val437=)
Gene: EEF1A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63488381C= , CM000682.2:g.63488381C= GRCh38
NC_000020.10:g.62119734C= , CM000682.1:g.62119734C= GRCh37
NC_000020.9:g.61590178C= NCBI36
NG_034083.1:g.15935G=

Transcript Alleles

HGVS Amino-acid Change
NM_001958.5:c.1309G= MANE Select NP_001949.1:p.Val437=
ENST00000217182.6:c.1309G= MANE Select ENSP00000217182.3:p.Val437=
NM_001958.3:c.1309G= NP_001949.1:p.Val437=
NM_001958.4:c.1309G= NP_001949.1:p.Val437=
ENST00000217182.4:c.1309G= ENSP00000217182.3:p.Val437=
ENST00000298049.11:c.1309G= ENSP00000298049.7:p.Val437=
ENST00000298049.12:c.1309G= ENSP00000298049.8:p.Val437=
ENST00000675519.1:c.*1181G= ENSP00000501859.1:n.*1181G=
ENST00000706948.1:c.1267G= ENSP00000516668.1:p.Val423=
ENST00000706949.1:c.1309G= ENSP00000516669.1:p.Val437=