ClinVar

NM_001267550.2(TTN):c.107728G>A (p.Glu35910Lys)

Genes:

TTN-AS1:TTN antisense RNA 1 [Gene - HGNC]
TTN:titin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

• Chr2: 178527260 (on Assembly GRCh38)
• Chr2: 179391987 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.107728G>A (p.Glu35910Lys)

HGVS:

• NC_000002.12:g.178527260C>T
• NG_011618.3:g.308543G>A
• NG_051363.1:g.9434C>T
• NM_001256850.1:c.102805G>A
• NM_001267550.2:c.107728G>AMANE SELECT
• NM_003319.4:c.80533G>A
• NM_133378.4:c.100024G>A
• NM_133432.3:c.80908G>A
• NM_133437.4:c.81109G>A
• NP_001243779.1:p.Glu34269Lys
• NP_001254479.2:p.Glu35910Lys
• NP_003310.4:p.Glu26845Lys
• NP_596869.4:p.Glu33342Lys
• NP_597676.3:p.Glu26970Lys
• NP_597681.4:p.Glu27037Lys
• LRG_391:g.308543G>A
• NC_000002.11:g.179391987C>T
• NM_001267550.2:c.107728G>A

This HGVS expression did not pass validation

Protein change:

E26845K

Links:

dbSNP: rs370649675

NCBI 1000 Genomes Browser:

rs370649675

Molecular consequence:

• NM_001256850.1:c.102805G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.107728G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003319.4:c.80533G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.100024G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133432.3:c.80908G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133437.4:c.81109G>A - missense variant - [Sequence Ontology: SO:0001583]