ClinVar

NM_002951.5(RPN2):c.886C>T (p.Leu296=)

Gene:

RPN2:ribophorin II [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20q11.23

Genomic location:

• Chr20: 37210065 (on Assembly GRCh38)
• Chr20: 35838468 (on Assembly GRCh37)

Preferred name:

NM_002951.5(RPN2):c.886C>T (p.Leu296=)

HGVS:

• NC_000020.11:g.37210065C>T
• NG_042268.1:g.36013C>T
• NM_001135771.3:c.790C>T
• NM_001324299.2:c.886C>T
• NM_001324301.2:c.934C>T
• NM_001324302.2:c.886C>T
• NM_001324303.2:c.886C>T
• NM_001324304.2:c.886C>T
• NM_001324305.2:c.934C>T
• NM_001324306.2:c.415C>T
• NM_002951.5:c.886C>TMANE SELECT
• NP_001129243.1:p.Leu264=
• NP_001311228.1:p.Leu296=
• NP_001311230.1:p.Leu312=
• NP_001311231.1:p.Leu296=
• NP_001311232.1:p.Leu296=
• NP_001311233.1:p.Leu296=
• NP_001311234.1:p.Leu312=
• NP_001311235.1:p.Leu139=
• NP_002942.2:p.Leu296=
• NC_000020.10:g.35838468C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001135771.3:c.790C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001324299.2:c.886C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001324301.2:c.934C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001324302.2:c.886C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001324303.2:c.886C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001324304.2:c.886C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001324305.2:c.934C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001324306.2:c.415C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_002951.5:c.886C>T - synonymous variant - [Sequence Ontology: SO:0001819]