ClinVar

NM_001322934.2(NFKB2):c.415C>T (p.Leu139=)

Gene:

NFKB2:nuclear factor kappa B subunit 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q24.32

Genomic location:

• Chr10: 102397321 (on Assembly GRCh38)
• Chr10: 104157078 (on Assembly GRCh37)

Preferred name:

NM_001322934.2(NFKB2):c.415C>T (p.Leu139=)

HGVS:

• NC_000010.11:g.102397321C>T
• NG_033874.2:g.8212C>T
• NM_001077493.1:c.415C>T
• NM_001077494.3:c.415C>T
• NM_001261403.3:c.415C>T
• NM_001288724.1:c.415C>T
• NM_001322934.2:c.415C>TMANE SELECT
• NM_001322935.1:c.415C>T
• NM_002502.6:c.415C>T
• NP_001070961.1:p.Leu139=
• NP_001070962.1:p.Leu139=
• NP_001248332.1:p.Leu139=
• NP_001275653.1:p.Leu139=
• NP_001309863.1:p.Leu139=
• NP_001309864.1:p.Leu139=
• NP_002493.3:p.Leu139=
• LRG_1347t1:c.415C>T
• LRG_1347:g.8212C>T
• LRG_1347p1:p.Leu139=
• NC_000010.10:g.104157078C>T
• NR_048560.1:n.978C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001077493.1:c.415C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001077494.3:c.415C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001261403.3:c.415C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001288724.1:c.415C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001322934.2:c.415C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001322935.1:c.415C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_002502.6:c.415C>T - synonymous variant - [Sequence Ontology: SO:0001819]