ClinVar

NM_002025.4(AFF2):c.3088A>C (p.Ile1030Leu)

Gene:

AFF2:ALF transcription elongation factor 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

• ChrX: 148966964 (on Assembly GRCh38)
• ChrX: 148048494 (on Assembly GRCh37)

Preferred name:

NM_002025.4(AFF2):c.3088A>C (p.Ile1030Leu)

HGVS:

• NC_000023.11:g.148966964A>C
• NG_016313.2:g.471346A>C
• NM_001169122.2:c.2983A>C
• NM_001169123.2:c.3058A>C
• NM_001169124.2:c.2983A>C
• NM_001169125.2:c.2971A>C
• NM_001170628.1:c.2011A>C
• NM_002025.4:c.3088A>CMANE SELECT
• NP_001162593.1:p.Ile995Leu
• NP_001162594.1:p.Ile1020Leu
• NP_001162595.1:p.Ile995Leu
• NP_001162596.1:p.Ile991Leu
• NP_001164099.1:p.Ile671Leu
• NP_002016.2:p.Ile1030Leu
• NC_000023.10:g.148048494A>C
• NG_016313.1:g.471356A>C
• NM_002025.3:c.3088A>C

This HGVS expression did not pass validation

Protein change:

I1020L

Links:

dbSNP: rs149653283

NCBI 1000 Genomes Browser:

rs149653283

Molecular consequence:

• NM_001169122.2:c.2983A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001169123.2:c.3058A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001169124.2:c.2983A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001169125.2:c.2971A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001170628.1:c.2011A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_002025.4:c.3088A>C - missense variant - [Sequence Ontology: SO:0001583]