ClinVar

NM_014680.5(BLTP2):c.2576C>T (p.Ala859Val)

Gene:

BLTP2:bridge-like lipid transfer protein family member 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q11.2

Genomic location:

• Chr17: 28635011 (on Assembly GRCh38)
• Chr17: 26962029 (on Assembly GRCh37)

Preferred name:

NM_014680.5(BLTP2):c.2576C>T (p.Ala859Val)

HGVS:

• NC_000017.11:g.28635011G>A
• NG_053109.1:g.15444C>T
• NM_001321560.2:c.2576C>T
• NM_001363826.1:c.2147C>T
• NM_001363827.1:c.1571C>T
• NM_001363828.1:c.551C>T
• NM_001363829.1:c.551C>T
• NM_014680.5:c.2576C>TMANE SELECT
• NP_001308489.1:p.Ala859Val
• NP_001350755.1:p.Ala716Val
• NP_001350756.1:p.Ala524Val
• NP_001350757.1:p.Ala184Val
• NP_001350758.1:p.Ala184Val
• NP_055495.2:p.Ala859Val
• NC_000017.10:g.26962029G>A
• NM_014680.3:c.2576C>T

This HGVS expression did not pass validation

Protein change:

A184V

Molecular consequence:

• NM_001321560.2:c.2576C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363826.1:c.2147C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363827.1:c.1571C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363828.1:c.551C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363829.1:c.551C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_014680.5:c.2576C>T - missense variant - [Sequence Ontology: SO:0001583]