ClinVar

NM_025265.4(TSEN2):c.904G>A (p.Glu302Lys)

Gene:

TSEN2:tRNA splicing endonuclease subunit 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p25.2

Genomic location:

• Chr3: 12505226 (on Assembly GRCh38)
• Chr3: 12546725 (on Assembly GRCh37)

Preferred name:

NM_025265.4(TSEN2):c.904G>A (p.Glu302Lys)

HGVS:

• NC_000003.12:g.12505226G>A
• NG_011521.2:g.25795G>A
• NM_001145392.2:c.904G>A
• NM_001145393.3:c.831+1442G>A
• NM_001145394.2:c.727G>A
• NM_001321277.2:c.904G>A
• NM_001321278.2:c.904G>A
• NM_001321279.2:c.831+1442G>A
• NM_025265.4:c.904G>AMANE SELECT
• NP_001138864.1:p.Glu302Lys
• NP_001138866.1:p.Glu243Lys
• NP_001308206.1:p.Glu302Lys
• NP_001308207.1:p.Glu302Lys
• NP_079541.1:p.Glu302Lys
• NC_000003.11:g.12546725G>A
• NR_135607.2:n.959G>A

This HGVS expression did not pass validation

Protein change:

E243K

Links:

dbSNP: rs1553587071

NCBI 1000 Genomes Browser:

rs1553587071

Molecular consequence:

• NM_001145393.3:c.831+1442G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001321279.2:c.831+1442G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001145392.2:c.904G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001145394.2:c.727G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321277.2:c.904G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321278.2:c.904G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_025265.4:c.904G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_135607.2:n.959G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]