ClinVar

NM_001267550.2(TTN):c.26893G>A (p.Glu8965Lys)

Gene:

TTN:titin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

• Chr2: 178713241 (on Assembly GRCh38)
• Chr2: 179577968 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.26893G>A (p.Glu8965Lys)

HGVS:

• NC_000002.12:g.178713241C>T
• NG_011618.3:g.122562G>A
• NM_001256850.1:c.25942G>A
• NM_001267550.2:c.26893G>AMANE SELECT
• NM_003319.4:c.13282+24841G>A
• NM_133378.4:c.23161G>A
• NM_133432.3:c.13657+24841G>A
• NM_133437.4:c.13858+24841G>A
• NP_001243779.1:p.Glu8648Lys
• NP_001254479.2:p.Glu8965Lys
• NP_596869.4:p.Glu7721Lys
• LRG_391t1:c.26893G>A
• LRG_391:g.122562G>A
• NC_000002.11:g.179577968C>T
• NM_001267550.1:c.26893G>A

This HGVS expression did not pass validation

Protein change:

E7721K

Links:

dbSNP: rs200325324

NCBI 1000 Genomes Browser:

rs200325324

Molecular consequence:

• NM_003319.4:c.13282+24841G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_133432.3:c.13657+24841G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_133437.4:c.13858+24841G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001256850.1:c.25942G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.26893G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.23161G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1