ClinVar

NM_001267550.2(TTN):c.100194A>T (p.Lys33398Asn)

Genes:

LOC126806420:BRD4-independent group 4 enhancer GRCh37_chr2:179401104-179402303 [Gene]
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: 178536553 (on Assembly GRCh38)
• Chr2: 179401280 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.100194A>T (p.Lys33398Asn)

HGVS:

• NC_000002.12:g.178536553T>A
• NG_011618.3:g.299250A>T
• NG_051363.1:g.18727T>A
• NM_001256850.1:c.95271A>T
• NM_001267550.2:c.100194A>TMANE SELECT
• NM_003319.4:c.72999A>T
• NM_133378.4:c.92490A>T
• NM_133432.3:c.73374A>T
• NM_133437.4:c.73575A>T
• NP_001243779.1:p.Lys31757Asn
• NP_001254479.2:p.Lys33398Asn
• NP_003310.4:p.Lys24333Asn
• NP_596869.4:p.Lys30830Asn
• NP_597676.3:p.Lys24458Asn
• NP_597681.4:p.Lys24525Asn
• LRG_391:g.299250A>T
• NC_000002.11:g.179401280T>A

This HGVS expression did not pass validation

Protein change:

K24333N

Links:

dbSNP: rs1060500553

NCBI 1000 Genomes Browser:

rs1060500553

Molecular consequence:

• NM_001256850.1:c.95271A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.100194A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003319.4:c.72999A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.92490A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133432.3:c.73374A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_133437.4:c.73575A>T - missense variant - [Sequence Ontology: SO:0001583]