ClinVar

NM_004101.4(F2RL2):c.1000G>A (p.Asp334Asn)

Genes:

IQGAP2:IQ motif containing GTPase activating protein 2 [Gene - OMIM - HGNC]
F2RL2:coagulation factor II thrombin receptor like 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q13.3

Genomic location:

• Chr5: 76617707 (on Assembly GRCh38)
• Chr5: 75913532 (on Assembly GRCh37)

Preferred name:

NM_004101.4(F2RL2):c.1000G>A (p.Asp334Asn)

HGVS:

• NC_000005.10:g.76617707C>T
• NG_053128.1:g.219453C>T
• NG_053128.2:g.219424C>T
• NM_001256566.2:c.934G>A
• NM_001285460.2:c.1371+6524C>T
• NM_001285461.2:c.180+6524C>T
• NM_001285462.2:c.180+6524C>T
• NM_004101.4:c.1000G>AMANE SELECT
• NM_006633.5:c.1521+6524C>TMANE SELECT
• NP_001243495.1:p.Asp312Asn
• NP_004092.1:p.Asp334Asn
• NC_000005.9:g.75913532C>T
• NM_004101.2:c.1000G>A

This HGVS expression did not pass validation

Protein change:

D312N

Molecular consequence:

• NM_001285460.2:c.1371+6524C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001285461.2:c.180+6524C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001285462.2:c.180+6524C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_006633.5:c.1521+6524C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001256566.2:c.934G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004101.4:c.1000G>A - missense variant - [Sequence Ontology: SO:0001583]