ClinVar

NM_004050.5(BCL2L2):c.476C>T (p.Ala159Val)

Genes:

BCL2L2:BCL2 like 2 [Gene - OMIM - HGNC]
BCL2L2-PABPN1:BCL2L2-PABPN1 readthrough [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q11.2

Genomic location:

• Chr14: 23308859 (on Assembly GRCh38)
• Chr14: 23778068 (on Assembly GRCh37)

Preferred name:

NM_004050.5(BCL2L2):c.476C>T (p.Ala159Val)

HGVS:

• NC_000014.9:g.23308859C>T
• NM_001199839.2:c.476C>T
• NM_001199864.3:c.432+660C>T
• NM_001387340.1:c.476C>T
• NM_001387341.1:c.432+660C>T
• NM_001387342.1:c.432+660C>T
• NM_001387343.1:c.432+660C>T
• NM_001387344.1:c.432+660C>T
• NM_001387345.1:c.432+660C>T
• NM_001387346.1:c.432+660C>T
• NM_004050.5:c.476C>TMANE SELECT
• NP_001186768.2:p.Ala159Val
• NP_001374269.1:p.Ala159Val
• NP_004041.2:p.Ala159Val
• NC_000014.8:g.23778068C>T
• NM_004050.4:c.476C>T

This HGVS expression did not pass validation

Protein change:

A159V

Molecular consequence:

• NM_001199864.3:c.432+660C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001387341.1:c.432+660C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001387342.1:c.432+660C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001387343.1:c.432+660C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001387344.1:c.432+660C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001387345.1:c.432+660C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001387346.1:c.432+660C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001199839.2:c.476C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001387340.1:c.476C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004050.5:c.476C>T - missense variant - [Sequence Ontology: SO:0001583]