ClinVar

NM_006995.5(BTN2A2):c.1095C>T (p.Phe365=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

6p22.2

Genomic location:

• Chr6: 26392490 (on Assembly GRCh38)
• Chr6: 26392718 (on Assembly GRCh37)

Preferred name:

NM_006995.5(BTN2A2):c.1095C>T (p.Phe365=)

HGVS:

• NC_000006.12:g.26392490C>T
• NM_001197237.2:c.1095C>T
• NM_001197238.2:c.979+1661C>T
• NM_001197239.2:c.465C>T
• NM_001197240.2:c.*195C>T
• NM_006995.5:c.1095C>TMANE SELECT
• NM_181531.3:c.747C>T
• NP_001184166.1:p.Phe365=
• NP_001184168.1:p.Phe155=
• NP_008926.2:p.Phe365=
• NP_853509.1:p.Phe249=
• NC_000006.11:g.26392718C>T
• NM_001197237.1:c.1095C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001197240.2:c.*195C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001197238.2:c.979+1661C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001197237.2:c.1095C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001197239.2:c.465C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_006995.5:c.1095C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_181531.3:c.747C>T - synonymous variant - [Sequence Ontology: SO:0001819]