ClinVar

NM_006995.5(BTN2A2):c.1201C>G (p.His401Asp)

Gene:

BTN2A2:butyrophilin subfamily 2 member A2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p22.2

Genomic location:

• Chr6: 26392596 (on Assembly GRCh38)
• Chr6: 26392824 (on Assembly GRCh37)

Preferred name:

NM_006995.5(BTN2A2):c.1201C>G (p.His401Asp)

HGVS:

• NC_000006.12:g.26392596C>G
• NM_001197237.2:c.1201C>G
• NM_001197238.2:c.980-1702C>G
• NM_001197239.2:c.571C>G
• NM_001197240.2:c.*301C>G
• NM_006995.5:c.1201C>GMANE SELECT
• NM_181531.3:c.853C>G
• NP_001184166.1:p.His401Asp
• NP_001184168.1:p.His191Asp
• NP_008926.2:p.His401Asp
• NP_853509.1:p.His285Asp
• NC_000006.11:g.26392824C>G
• NM_001197237.1:c.1201C>G

This HGVS expression did not pass validation

Protein change:

H191D

Molecular consequence:

• NM_001197240.2:c.*301C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001197238.2:c.980-1702C>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001197237.2:c.1201C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001197239.2:c.571C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_006995.5:c.1201C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_181531.3:c.853C>G - missense variant - [Sequence Ontology: SO:0001583]