Canonical Allele Identifier: CA2736828878
Community Standard Title: NM_001958.5(EEF1A2):c.1264+17C>G
Gene: EEF1A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63488901G>C , CM000682.2:g.63488901G>C GRCh38
NC_000020.10:g.62120254G>C , CM000682.1:g.62120254G>C GRCh37
NC_000020.9:g.61590698G>C NCBI36
NG_034083.1:g.15415C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001958.5:c.1264+17C>G MANE Select NP_001949.1:n.1264+17C>G
ENST00000217182.6:c.1264+17C>G MANE Select ENSP00000217182.3:n.1264+17C>G
NM_001958.3:c.1264+17C>G NP_001949.1:n.1264+17C>G
NM_001958.4:c.1264+17C>G NP_001949.1:n.1264+17C>G
ENST00000217182.4:c.1264+17C>G ENSP00000217182.3:n.1264+17C>G
ENST00000298049.11:c.1264+17C>G ENSP00000298049.7:n.1264+17C>G
ENST00000298049.12:c.1264+17C>G ENSP00000298049.8:n.1264+17C>G
ENST00000675519.1:c.*1136+17C>G ENSP00000501859.1:n.*1136+17C>G
ENST00000706948.1:c.1264+17C>G ENSP00000516668.1:n.1264+17C>G
ENST00000706949.1:c.1264+17C>G ENSP00000516669.1:n.1264+17C>G