ClinVar

NM_003355.3(UCP2):c.685A>G (p.Thr229Ala)

Gene:

UCP2:uncoupling protein 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.4

Genomic location:

• Chr11: 73975621 (on Assembly GRCh38)
• Chr11: 73686666 (on Assembly GRCh37)

Preferred name:

NM_003355.3(UCP2):c.685A>G (p.Thr229Ala)

HGVS:

• NC_000011.10:g.73975621T>C
• NG_011478.1:g.12224A>G
• NM_001381943.1:c.685A>G
• NM_001381944.1:c.685A>G
• NM_001381945.1:c.685A>G
• NM_001381947.1:c.685A>G
• NM_001381948.1:c.685A>G
• NM_001381949.1:c.583A>G
• NM_001381950.1:c.490A>G
• NM_003355.3:c.685A>GMANE SELECT
• NP_001368872.1:p.Thr229Ala
• NP_001368873.1:p.Thr229Ala
• NP_001368874.1:p.Thr229Ala
• NP_001368876.1:p.Thr229Ala
• NP_001368877.1:p.Thr229Ala
• NP_001368878.1:p.Thr195Ala
• NP_001368879.1:p.Thr164Ala
• NP_003346.2:p.Thr229Ala
• NC_000011.9:g.73686666T>C

This HGVS expression did not pass validation

Protein change:

T164A

Links:

dbSNP: rs2135363060

NCBI 1000 Genomes Browser:

rs2135363060

Molecular consequence:

• NM_001381943.1:c.685A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001381944.1:c.685A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001381945.1:c.685A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001381947.1:c.685A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001381948.1:c.685A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001381949.1:c.583A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001381950.1:c.490A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_003355.3:c.685A>G - missense variant - [Sequence Ontology: SO:0001583]