ClinVar

NM_170665.4(ATP2A2):c.2631G>T (p.Glu877Asp)

Genes:

ATP2A2:ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 [Gene - OMIM - HGNC]
LOC126861638:MED14-independent group 3 enhancer GRCh37_chr12:110782389-110783588 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

12q24.11

Genomic location:

• Chr12: 110345272 (on Assembly GRCh38)
• Chr12: 110783077 (on Assembly GRCh37)

Preferred name:

NM_170665.4(ATP2A2):c.2631G>T (p.Glu877Asp)

HGVS:

• NC_000012.12:g.110345272G>T
• NG_007097.2:g.68646G>T
• NG_086136.1:g.789G>T
• NM_001413013.1:c.2526G>T
• NM_001413014.1:c.2631G>T
• NM_001413015.1:c.2256G>T
• NM_001681.4:c.2631G>T
• NM_170665.4:c.2631G>TMANE SELECT
• NP_001399942.1:p.Glu842Asp
• NP_001399943.1:p.Glu877Asp
• NP_001399944.1:p.Glu752Asp
• NP_001672.1:p.Glu877Asp
• NP_733765.1:p.Glu877Asp
• NC_000012.11:g.110783077G>T
• NM_001681.3:c.2631G>T

This HGVS expression did not pass validation

Protein change:

E752D

Molecular consequence:

• NM_001413013.1:c.2526G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001413014.1:c.2631G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001413015.1:c.2256G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001681.4:c.2631G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_170665.4:c.2631G>T - missense variant - [Sequence Ontology: SO:0001583]