ClinVar

NM_001034116.2(EIF2B4):c.1218T>C (p.His406=)

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: 27364872 (on Assembly GRCh38)
• Chr2: 27587739 (on Assembly GRCh37)

Preferred name:

NM_001034116.2(EIF2B4):c.1218T>C (p.His406=)

HGVS:

• NC_000002.12:g.27364872A>G
• NG_009305.1:g.10586T>C
• NM_001034116.2:c.1218T>CMANE SELECT
• NM_001318965.2:c.1281T>C
• NM_001318966.2:c.1173T>C
• NM_001318967.2:c.1125T>C
• NM_001318968.2:c.633T>C
• NM_001318969.2:c.600T>C
• NM_015636.4:c.1215T>C
• NM_172195.4:c.1278T>C
• NP_001029288.1:p.His406=
• NP_001305894.1:p.His427=
• NP_001305895.1:p.His391=
• NP_001305896.1:p.His375=
• NP_001305897.1:p.His211=
• NP_001305898.1:p.His200=
• NP_056451.3:p.His405=
• NP_751945.2:p.His426=
• NC_000002.11:g.27587739A>G

This HGVS expression did not pass validation

Links:

dbSNP: rs753573267

NCBI 1000 Genomes Browser:

rs753573267

Molecular consequence:

• NM_001034116.2:c.1218T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001318965.2:c.1281T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001318966.2:c.1173T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001318967.2:c.1125T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001318968.2:c.633T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001318969.2:c.600T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_015636.4:c.1215T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_172195.4:c.1278T>C - synonymous variant - [Sequence Ontology: SO:0001819]