ClinVar

NM_001267550.2(TTN):c.7156G>A (p.Gly2386Ser)

Genes:

LOC126806433:BRD4-independent group 4 enhancer GRCh37_chr2:179638309-179639508 [Gene]
TTN:titin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

• Chr2: 178774012 (on Assembly GRCh38)
• Chr2: 179638739 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.7156G>A (p.Gly2386Ser)

HGVS:

• NC_000002.12:g.178774012C>T
• NG_011618.3:g.61791G>A
• NM_001256850.1:c.7156G>A
• NM_001267550.2:c.7156G>AMANE SELECT
• NM_003319.4:c.7018G>A
• NM_133378.4:c.7156G>A
• NM_133379.5:c.7156G>A
• NM_133432.3:c.7018G>A
• NM_133437.4:c.7018G>A
• NP_001243779.1:p.Gly2386Ser
• NP_001254479.2:p.Gly2386Ser
• NP_003310.4:p.Gly2340Ser
• NP_596869.4:p.Gly2386Ser
• NP_596870.2:p.Gly2386Ser
• NP_597676.3:p.Gly2340Ser
• NP_597681.4:p.Gly2340Ser
• LRG_391:g.61791G>A
• NC_000002.11:g.179638739C>T

This HGVS expression did not pass validation

Protein change:

G2340S

Links:

dbSNP: rs777101912

NCBI 1000 Genomes Browser:

rs777101912

Molecular consequence:

• NM_001256850.1:c.7156G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.7156G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003319.4:c.7018G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.7156G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133379.5:c.7156G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133432.3:c.7018G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133437.4:c.7018G>A - missense variant - [Sequence Ontology: SO:0001583]