ClinVar

NM_001267550.2(TTN):c.98389A>G (p.Asn32797Asp)

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: 178539676 (on Assembly GRCh38)
• Chr2: 179404403 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.98389A>G (p.Asn32797Asp)

HGVS:

• NC_000002.12:g.178539676T>C
• NG_011618.3:g.296127A>G
• NG_051363.1:g.21850T>C
• NM_001256850.1:c.93466A>G
• NM_001267550.2:c.98389A>GMANE SELECT
• NM_003319.4:c.71194A>G
• NM_133378.4:c.90685A>G
• NM_133432.3:c.71569A>G
• NM_133437.4:c.71770A>G
• NP_001243779.1:p.Asn31156Asp
• NP_001254479.2:p.Asn32797Asp
• NP_003310.4:p.Asn23732Asp
• NP_596869.4:p.Asn30229Asp
• NP_597676.3:p.Asn23857Asp
• NP_597681.4:p.Asn23924Asp
• LRG_391:g.296127A>G
• NC_000002.11:g.179404403T>C
• NR_038272.1:n.1626T>C

This HGVS expression did not pass validation

Protein change:

N23732D

Links:

dbSNP: rs786205343

NCBI 1000 Genomes Browser:

rs786205343

Molecular consequence:

• NM_001256850.1:c.93466A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.98389A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_003319.4:c.71194A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.90685A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_133432.3:c.71569A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_133437.4:c.71770A>G - missense variant - [Sequence Ontology: SO:0001583]
• NR_038272.1:n.1626T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]