ClinVar

NM_031443.4(CCM2):c.438G>A (p.Arg146=)

Gene:

CCM2:CCM2 scaffold protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p13

Genomic location:

• Chr7: 45064612 (on Assembly GRCh38)
• Chr7: 45104211 (on Assembly GRCh37)

Preferred name:

NM_031443.4(CCM2):c.438G>A (p.Arg146=)

HGVS:

• NC_000007.14:g.45064612G>A
• NG_016295.1:g.69425G>A
• NM_001029835.2:c.501G>A
• NM_001167934.2:c.264G>A
• NM_001167935.2:c.438G>A
• NM_001363458.2:c.438G>A
• NM_001363459.2:c.264G>A
• NM_031443.4:c.438G>AMANE SELECT
• NP_001025006.1:p.Arg167=
• NP_001161406.1:p.Arg88=
• NP_001161407.1:p.Arg146=
• NP_001350387.1:p.Arg146=
• NP_001350388.1:p.Arg88=
• NP_113631.1:p.Arg146=
• LRG_664t1:c.501G>A
• LRG_664:g.69425G>A
• LRG_664p1:p.Arg167=
• NC_000007.13:g.45104211G>A
• NR_030770.2:n.520G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs1280936139

NCBI 1000 Genomes Browser:

rs1280936139

Molecular consequence:

• NR_030770.2:n.520G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001029835.2:c.501G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001167934.2:c.264G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001167935.2:c.438G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001363458.2:c.438G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001363459.2:c.264G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_031443.4:c.438G>A - synonymous variant - [Sequence Ontology: SO:0001819]