ClinVar

NM_002695.5(POLR2E):c.233-2A>G

Gene:

POLR2E:RNA polymerase II, I and III subunit E [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.3

Genomic location:

• Chr19: 1091909 (on Assembly GRCh38)
• Chr19: 1091908 (on Assembly GRCh37)

Preferred name:

NM_002695.5(POLR2E):c.233-2A>G

HGVS:

• NC_000019.10:g.1091909T>C
• NM_001316323.2:c.-47-2A>G
• NM_001316324.2:c.-47-2A>G
• NM_002695.5:c.233-2A>GMANE SELECT
• NC_000019.9:g.1091908T>C
• NM_002695.3:c.233-2A>G

This HGVS expression did not pass validation

Links:

dbSNP: rs1297383239

NCBI 1000 Genomes Browser:

rs1297383239

Molecular consequence:

• NM_001316323.2:c.-47-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_001316324.2:c.-47-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
• NM_002695.5:c.233-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]