ClinVar

NM_025265.4(TSEN2):c.-391G>A

Genes:

LOC129936171:ATAC-STARR-seq lymphoblastoid active region 19441 [Gene]
TSEN2:tRNA splicing endonuclease subunit 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p25.2

Genomic location:

• Chr3: 12484507 (on Assembly GRCh38)
• Chr3: 12526006 (on Assembly GRCh37)

Preferred name:

NM_025265.4(TSEN2):c.-391G>A

HGVS:

• NC_000003.12:g.12484507G>A
• NG_011521.2:g.5076G>A
• NM_001145392.2:c.-139G>A
• NM_001145393.3:c.-28G>A
• NM_001145394.2:c.-28G>A
• NM_001321277.2:c.-28G>A
• NM_001321278.2:c.-28G>A
• NM_001321279.2:c.-391G>A
• NM_025265.4:c.-391G>AMANE SELECT
• NC_000003.11:g.12526006G>A
• NR_135607.2:n.28G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs3806662

NCBI 1000 Genomes Browser:

rs3806662

Molecular consequence:

• NM_001145392.2:c.-139G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001145393.3:c.-28G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001145394.2:c.-28G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001321277.2:c.-28G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001321278.2:c.-28G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001321279.2:c.-391G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_025265.4:c.-391G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NR_135607.2:n.28G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]