ClinVar

NM_001034116.2(EIF2B4):c.1303C>T (p.Leu435=)

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: 27364787 (on Assembly GRCh38)
• Chr2: 27587654 (on Assembly GRCh37)

Preferred name:

NM_001034116.2(EIF2B4):c.1303C>T (p.Leu435=)

HGVS:

• NC_000002.12:g.27364787G>A
• NG_009305.1:g.10671C>T
• NM_001034116.2:c.1303C>TMANE SELECT
• NM_001318965.2:c.1366C>T
• NM_001318966.2:c.1258C>T
• NM_001318967.2:c.1210C>T
• NM_001318968.2:c.718C>T
• NM_001318969.2:c.685C>T
• NM_015636.4:c.1300C>T
• NM_172195.4:c.1363C>T
• NP_001029288.1:p.Leu435=
• NP_001305894.1:p.Leu456=
• NP_001305895.1:p.Leu420=
• NP_001305896.1:p.Leu404=
• NP_001305897.1:p.Leu240=
• NP_001305898.1:p.Leu229=
• NP_056451.3:p.Leu434=
• NP_056451.3:p.Leu434=
• NP_751945.2:p.Leu455=
• NC_000002.11:g.27587654G>A
• NC_000002.11:g.27587654G>A
• NM_015636.3:c.1300C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs868522898

NCBI 1000 Genomes Browser:

rs868522898

Molecular consequence:

• NM_001034116.2:c.1303C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001318965.2:c.1366C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001318966.2:c.1258C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001318967.2:c.1210C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001318968.2:c.718C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001318969.2:c.685C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_015636.4:c.1300C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_172195.4:c.1363C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1