ClinVar

NM_170665.4(ATP2A2):c.2139C>T (p.Ala713=)

Gene:

ATP2A2:ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q24.11

Genomic location:

• Chr12: 110342269 (on Assembly GRCh38)
• Chr12: 110780074 (on Assembly GRCh37)

Preferred name:

NM_170665.4(ATP2A2):c.2139C>T (p.Ala713=)

HGVS:

• NC_000012.12:g.110342269C>T
• NG_007097.2:g.65643C>T
• NM_001413013.1:c.2034C>T
• NM_001413014.1:c.2139C>T
• NM_001413015.1:c.1764C>T
• NM_001681.4:c.2139C>T
• NM_170665.4:c.2139C>TMANE SELECT
• NP_001399942.1:p.Ala678=
• NP_001399943.1:p.Ala713=
• NP_001399944.1:p.Ala588=
• NP_001672.1:p.Ala713=
• NP_733765.1:p.Ala713=
• NC_000012.11:g.110780074C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001413013.1:c.2034C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001413014.1:c.2139C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001413015.1:c.1764C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001681.4:c.2139C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_170665.4:c.2139C>T - synonymous variant - [Sequence Ontology: SO:0001819]