ClinVar

NM_001267550.2(TTN):c.67428C>T (p.His22476=)

Genes:

LOC126806423:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:179443309-179444508 [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: 178579769 (on Assembly GRCh38)
• Chr2: 179444496 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.67428C>T (p.His22476=)

HGVS:

• NC_000002.12:g.178579769G>A
• NG_011618.3:g.256034C>T
• NG_051363.1:g.61943G>A
• NM_001256850.1:c.62505C>T
• NM_001267550.2:c.67428C>TMANE SELECT
• NM_003319.4:c.40233C>T
• NM_133378.4:c.59724C>T
• NM_133432.3:c.40608C>T
• NM_133437.4:c.40809C>T
• NP_001243779.1:p.His20835=
• NP_001254479.2:p.His22476=
• NP_003310.4:p.His13411=
• NP_596869.4:p.His19908=
• NP_597676.3:p.His13536=
• NP_597681.4:p.His13603=
• LRG_391:g.256034C>T
• NC_000002.11:g.179444496G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs772184456

NCBI 1000 Genomes Browser:

rs772184456

Molecular consequence:

• NM_001256850.1:c.62505C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001267550.2:c.67428C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003319.4:c.40233C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133378.4:c.59724C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133432.3:c.40608C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133437.4:c.40809C>T - synonymous variant - [Sequence Ontology: SO:0001819]