ClinVar

NM_001034116.2(EIF2B4):c.1206A>G (p.Leu402=)

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: 27364884 (on Assembly GRCh38)
• Chr2: 27587751 (on Assembly GRCh37)

Preferred name:

NM_001034116.2(EIF2B4):c.1206A>G (p.Leu402=)

HGVS:

• NC_000002.12:g.27364884T>C
• NG_009305.1:g.10574A>G
• NM_001034116.2:c.1206A>GMANE SELECT
• NM_001318965.2:c.1269A>G
• NM_001318966.2:c.1161A>G
• NM_001318967.2:c.1113A>G
• NM_001318968.2:c.621A>G
• NM_001318969.2:c.588A>G
• NM_015636.4:c.1203A>G
• NM_172195.4:c.1266A>G
• NP_001029288.1:p.Leu402=
• NP_001305894.1:p.Leu423=
• NP_001305895.1:p.Leu387=
• NP_001305896.1:p.Leu371=
• NP_001305897.1:p.Leu207=
• NP_001305898.1:p.Leu196=
• NP_056451.3:p.Leu401=
• NP_751945.2:p.Leu422=
• NC_000002.11:g.27587751T>C

This HGVS expression did not pass validation

Molecular consequence:

• NM_001034116.2:c.1206A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001318965.2:c.1269A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001318966.2:c.1161A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001318967.2:c.1113A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001318968.2:c.621A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001318969.2:c.588A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_015636.4:c.1203A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_172195.4:c.1266A>G - synonymous variant - [Sequence Ontology: SO:0001819]