ClinVar

NM_005138.3(SCO2):c.738G>C (p.Ser246=)

Genes:

NCAPH2:non-SMC condensin II complex subunit H2 [Gene - OMIM - HGNC]
SCO2:synthesis of cytochrome C oxidase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q13.33

Genomic location:

• Chr22: 50523674 (on Assembly GRCh38)
• Chr22: 50962103 (on Assembly GRCh37)

Preferred name:

NM_005138.3(SCO2):c.738G>C (p.Ser246=)

HGVS:

• NC_000022.11:g.50523674C>G
• NG_016235.1:g.7766G>C
• NG_021419.1:g.20459C>G
• NM_001169109.2:c.738G>C
• NM_001169110.1:c.738G>C
• NM_001169111.2:c.738G>C
• NM_001185011.2:c.*299C>G
• NM_005138.3:c.738G>CMANE SELECT
• NM_152299.4:c.*299C>GMANE SELECT
• NP_001162580.1:p.Ser246=
• NP_001162581.1:p.Ser246=
• NP_001162582.1:p.Ser246=
• NP_005129.2:p.Ser246=
• NP_005129.2:p.Ser246=
• NC_000022.10:g.50962103C>G
• NM_005138.2:c.738G>C

This HGVS expression did not pass validation

Links:

dbSNP: rs200605042

NCBI 1000 Genomes Browser:

rs200605042

Molecular consequence:

• NM_001185011.2:c.*299C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_152299.4:c.*299C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001169109.2:c.738G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001169110.1:c.738G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001169111.2:c.738G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_005138.3:c.738G>C - synonymous variant - [Sequence Ontology: SO:0001819]