ClinVar

NM_001135651.3(EIF2AK2):c.1278A>G (p.Lys426=)

Gene:

EIF2AK2:eukaryotic translation initiation factor 2 alpha kinase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p22.2

Genomic location:

• Chr2: 37114830 (on Assembly GRCh38)
• Chr2: 37341973 (on Assembly GRCh37)

Preferred name:

NM_001135651.3(EIF2AK2):c.1278A>G (p.Lys426=)

HGVS:

• NC_000002.12:g.37114830T>C
• NG_030351.2:g.47150A>G
• NM_001135651.3:c.1278A>GMANE SELECT
• NM_001135652.2:c.1155A>G
• NM_002759.4:c.1278A>G
• NP_001129123.1:p.Lys426=
• NP_001129124.1:p.Lys385=
• NP_002750.1:p.Lys426=
• NC_000002.11:g.37341973T>C
• NG_030351.1:g.47218A>G

This HGVS expression did not pass validation

Molecular consequence:

• NM_001135651.3:c.1278A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001135652.2:c.1155A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_002759.4:c.1278A>G - synonymous variant - [Sequence Ontology: SO:0001819]