ClinVar

NM_002803.4(PSMC2):c.71-1342A>G

Genes:

SLC26A5:solute carrier family 26 member 5 [Gene - OMIM - HGNC]
PSMC2:proteasome 26S subunit, ATPase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q22.1

Genomic location:

• Chr7: 103352579 (on Assembly GRCh38)
• Chr7: 102993026 (on Assembly GRCh37)

Preferred name:

NM_002803.4(PSMC2):c.71-1342A>G

HGVS:

• NC_000007.14:g.103352579A>G
• NG_023055.1:g.98599T>C
• NM_001204453.1:c.71-1342A>G
• NM_002803.4:c.71-1342A>GMANE SELECT
• NC_000007.13:g.102993026A>G

This HGVS expression did not pass validation

Links:

dbSNP: rs11978339

NCBI 1000 Genomes Browser:

rs11978339

Molecular consequence:

• NM_001204453.1:c.71-1342A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_002803.4:c.71-1342A>G - intron variant - [Sequence Ontology: SO:0001627]