ClinVar

NM_001034116.2(EIF2B4):c.1275G>A (p.Leu425=)

Genes:

GTF3C2-AS2:GTF3C2 antisense RNA 2 [Gene - HGNC]
EIF2B4:eukaryotic translation initiation factor 2B subunit delta [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p23.3

Genomic location:

• Chr2: 27364815 (on Assembly GRCh38)
• Chr2: 27587682 (on Assembly GRCh37)

Preferred name:

NM_001034116.2(EIF2B4):c.1275G>A (p.Leu425=)

HGVS:

• NC_000002.12:g.27364815C>T
• NG_009305.1:g.10643G>A
• NM_001034116.2:c.1275G>AMANE SELECT
• NM_001318965.2:c.1338G>A
• NM_001318966.2:c.1230G>A
• NM_001318967.2:c.1182G>A
• NM_001318968.2:c.690G>A
• NM_001318969.2:c.657G>A
• NM_015636.4:c.1272G>A
• NM_172195.4:c.1335G>A
• NP_001029288.1:p.Leu425=
• NP_001305894.1:p.Leu446=
• NP_001305895.1:p.Leu410=
• NP_001305896.1:p.Leu394=
• NP_001305897.1:p.Leu230=
• NP_001305898.1:p.Leu219=
• NP_056451.3:p.Leu424=
• NP_751945.2:p.Leu445=
• NC_000002.11:g.27587682C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001034116.2:c.1275G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001318965.2:c.1338G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001318966.2:c.1230G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001318967.2:c.1182G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001318968.2:c.690G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001318969.2:c.657G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_015636.4:c.1272G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_172195.4:c.1335G>A - synonymous variant - [Sequence Ontology: SO:0001819]