ClinVar

NM_001005242.3(PKP2):c.2350G>A (p.Gly784Ser)

Gene:

PKP2:plakophilin 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12p11.21

Genomic location:

• Chr12: 32796116 (on Assembly GRCh38)
• Chr12: 32949050 (on Assembly GRCh37)

Preferred name:

NM_001005242.3(PKP2):c.2350G>A (p.Gly784Ser)

HGVS:

• NC_000012.12:g.32796116C>T
• NG_009000.1:g.105731G>A
• NM_001005242.3:c.2350G>AMANE SELECT
• NM_004572.4:c.2482G>A
• NP_001005242.2:p.Gly784Ser
• NP_004563.2:p.Gly828Ser
• NP_004563.2:p.Gly828Ser
• LRG_398t1:c.2482G>A
• LRG_398:g.105731G>A
• LRG_398p1:p.Gly828Ser
• NC_000012.11:g.32949050C>T
• NM_004572.3:c.2482G>A

This HGVS expression did not pass validation

Protein change:

G784S

Links:

dbSNP: rs750119363

NCBI 1000 Genomes Browser:

rs750119363

Molecular consequence:

• NM_001005242.3:c.2350G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004572.4:c.2482G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1