ClinVar

NM_016156.6(MTMR2):c.1504G>C (p.Glu502Gln)

Gene:

MTMR2:myotubularin related protein 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q21

Genomic location:

• Chr11: 95838183 (on Assembly GRCh38)
• Chr11: 95571347 (on Assembly GRCh37)

Preferred name:

NM_016156.6(MTMR2):c.1504G>C (p.Glu502Gln)

HGVS:

• NC_000011.10:g.95838183C>G
• NG_008333.1:g.91025G>C
• NM_001243571.2:c.1288G>C
• NM_003912.1:c.1504G>C
• NM_016156.6:c.1504G>CMANE SELECT
• NM_201278.3:c.1288G>C
• NM_201281.3:c.1288G>C
• NP_001230500.1:p.Glu430Gln
• NP_057240.3:p.Glu502Gln
• NP_057240.3:p.Glu502Gln
• NP_958435.1:p.Glu430Gln
• NP_958438.1:p.Glu430Gln
• LRG_257t1:c.1504G>C
• LRG_257:g.91025G>C
• LRG_257p1:p.Glu502Gln
• NC_000011.9:g.95571347C>G
• NM_001243571.1:c.1288G>C
• NM_016156.5:c.1504G>C

This HGVS expression did not pass validation

Protein change:

E430Q

Links:

dbSNP: rs61735578

NCBI 1000 Genomes Browser:

rs61735578

Molecular consequence:

• NM_001243571.2:c.1288G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_016156.6:c.1504G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_201278.3:c.1288G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_201281.3:c.1288G>C - missense variant - [Sequence Ontology: SO:0001583]