ClinVar

NM_001267550.2(TTN):c.3010G>A (p.Glu1004Lys)

Gene:

TTN:titin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

• Chr2: 178782896 (on Assembly GRCh38)
• Chr2: 179647623 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.3010G>A (p.Glu1004Lys)

HGVS:

• NC_000002.12:g.178782896C>T
• NG_011618.3:g.52907G>A
• NM_001256850.1:c.3010G>A
• NM_001267550.2:c.3010G>AMANE SELECT
• NM_003319.4:c.2872G>A
• NM_133378.4:c.3010G>A
• NM_133379.5:c.3010G>A
• NM_133432.3:c.2872G>A
• NM_133437.4:c.2872G>A
• NP_001243779.1:p.Glu1004Lys
• NP_001254479.2:p.Glu1004Lys
• NP_003310.4:p.Glu958Lys
• NP_596869.4:p.Glu1004Lys
• NP_596870.2:p.Glu1004Lys
• NP_597676.3:p.Glu958Lys
• NP_597681.4:p.Glu958Lys
• LRG_391t1:c.3010G>A
• LRG_391:g.52907G>A
• NC_000002.11:g.179647623C>T
• NM_001267550.1:c.3010G>A

This HGVS expression did not pass validation

Protein change:

E1004K

Links:

dbSNP: rs200902055

NCBI 1000 Genomes Browser:

rs200902055

Molecular consequence:

• NM_001256850.1:c.3010G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.3010G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003319.4:c.2872G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.3010G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133379.5:c.3010G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133432.3:c.2872G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133437.4:c.2872G>A - missense variant - [Sequence Ontology: SO:0001583]