ClinVar

NM_001195427.2(SRSF2):c.284C>T (p.Pro95Leu)

Genes:

MFSD11:major facilitator superfamily domain containing 11 [Gene - OMIM - HGNC]
SRSF2:serine and arginine rich splicing factor 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q25.1

Genomic location:

• Chr17: 76736877 (on Assembly GRCh38)
• Chr17: 74732959 (on Assembly GRCh37)

Preferred name:

NM_001195427.2(SRSF2):c.284C>T (p.Pro95Leu)

HGVS:

• NC_000017.11:g.76736877G>A
• NG_032905.1:g.5535C>T
• NG_137655.1:g.573G>A
• NM_001195427.2:c.284C>TMANE SELECT
• NM_001242534.3:c.-286G>A
• NM_001353017.2:c.-281G>A
• NM_003016.5:c.284C>T
• NP_001182356.1:p.Pro95Leu
• NP_003007.2:p.Pro95Leu
• NP_003007.2:p.Pro95Leu
• LRG_640t1:c.284C>T
• LRG_640:g.5535C>T
• LRG_640p1:p.Pro95Leu
• NC_000017.10:g.74732959G>A
• NM_001195427.2:c.284C>T
• NM_003016.4:c.284C>T
• NR_036608.2:n.455C>T
• NR_148229.2:n.244G>A
• NR_148230.2:n.244G>A
• NR_148231.2:n.244G>A

This HGVS expression did not pass validation

Protein change:

P95L

Molecular consequence:

• NM_001242534.3:c.-286G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001353017.2:c.-281G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001195427.2:c.284C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003016.5:c.284C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_036608.2:n.455C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_148229.2:n.244G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_148230.2:n.244G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_148231.2:n.244G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]