ClinVar

NM_031443.4(CCM2):c.958G>T (p.Ala320Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7p13

Genomic location:

• Chr7: 45074312 (on Assembly GRCh38)
• Chr7: 45113911 (on Assembly GRCh37)

Preferred name:

NM_031443.4(CCM2):c.958G>T (p.Ala320Ser)

HGVS:

• NC_000007.14:g.45074312G>T
• NG_016295.1:g.79125G>T
• NM_001029835.2:c.1021G>T
• NM_001167934.2:c.784G>T
• NM_001167935.2:c.685G>T
• NM_001363458.2:c.1081G>T
• NM_001363459.2:c.907G>T
• NM_031443.4:c.958G>TMANE SELECT
• NP_001025006.1:p.Ala341Ser
• NP_001161406.1:p.Ala262Ser
• NP_001161407.1:p.Ala229Ser
• NP_001350387.1:p.Ala361Ser
• NP_001350388.1:p.Ala303Ser
• NP_113631.1:p.Ala320Ser
• NP_113631.1:p.Ala320Ser
• LRG_664t1:c.1021G>T
• LRG_664t2:c.958G>T
• LRG_664:g.79125G>T
• LRG_664p1:p.Ala341Ser
• LRG_664p2:p.Ala320Ser
• NC_000007.13:g.45113911G>T
• NM_031443.3:c.958G>T
• NR_030770.2:n.1040G>T

This HGVS expression did not pass validation

Protein change:

A229S

Links:

dbSNP: rs2486175296

NCBI 1000 Genomes Browser:

rs2486175296

Molecular consequence:

• NM_001029835.2:c.1021G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001167934.2:c.784G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001167935.2:c.685G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363458.2:c.1081G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363459.2:c.907G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_031443.4:c.958G>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_030770.2:n.1040G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]