ClinVar

NM_000275.3(OCA2):c.1025A>G (p.Tyr342Cys)

Gene:

OCA2:OCA2 melanosomal transmembrane protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q13.1

Genomic location:

• Chr15: 28014795 (on Assembly GRCh38)
• Chr15: 28259941 (on Assembly GRCh37)

Preferred name:

NM_000275.3(OCA2):c.1025A>G (p.Tyr342Cys)

HGVS:

• NC_000015.10:g.28014795T>C
• NG_009846.1:g.89518A>G
• NM_000275.3:c.1025A>GMANE SELECT
• NM_001300984.2:c.1025A>G
• NP_000266.2:p.Tyr342Cys
• NP_001287913.1:p.Tyr342Cys
• NC_000015.9:g.28259941T>C
• NM_000275.2:c.1025A>G

This HGVS expression did not pass validation

Protein change:

Y342C

Links:

dbSNP: rs142931246

NCBI 1000 Genomes Browser:

rs142931246

Molecular consequence:

• NM_000275.3:c.1025A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001300984.2:c.1025A>G - missense variant - [Sequence Ontology: SO:0001583]