ClinVar

NM_031885.5(BBS2):c.1624G>T (p.Gly542Cys)

Gene:

BBS2:Bardet-Biedl syndrome 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q13

Genomic location:

• Chr16: 56498472 (on Assembly GRCh38)
• Chr16: 56532384 (on Assembly GRCh37)

Preferred name:

NM_031885.5(BBS2):c.1624G>T (p.Gly542Cys)

HGVS:

• NC_000016.10:g.56498472C>A
• NG_009312.2:g.26553G>T
• NM_001377456.1:c.1624G>T
• NM_031885.5:c.1624G>TMANE SELECT
• NP_001364385.1:p.Gly542Cys
• NP_114091.4:p.Gly542Cys
• NC_000016.9:g.56532384C>A
• NG_009312.1:g.26812G>T
• NM_031885.3:c.1624G>T
• NR_165293.1:n.1914G>T
• NR_165294.1:n.1911G>T
• NR_165295.1:n.1742G>T
• NR_165296.1:n.1614G>T
• NR_165297.1:n.1614G>T

This HGVS expression did not pass validation

Protein change:

G542C

Links:

dbSNP: rs556899786

Molecular consequence:

• NM_001377456.1:c.1624G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_031885.5:c.1624G>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_165293.1:n.1914G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_165294.1:n.1911G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_165295.1:n.1742G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_165296.1:n.1614G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_165297.1:n.1614G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]