ClinVar

NM_001267550.2(TTN):c.59937G>A (p.Gly19979=)

Genes:

LOC126806424:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:179456337-179457536 [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: 178591882 (on Assembly GRCh38)
• Chr2: 179456609 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.59937G>A (p.Gly19979=)

HGVS:

• NC_000002.12:g.178591882C>T
• NG_011618.3:g.243921G>A
• NG_051363.1:g.74056C>T
• NM_001256850.1:c.55014G>A
• NM_001267550.2:c.59937G>AMANE SELECT
• NM_003319.4:c.32742G>A
• NM_133378.4:c.52233G>A
• NM_133432.3:c.33117G>A
• NM_133437.4:c.33318G>A
• NP_001243779.1:p.Gly18338=
• NP_001254479.2:p.Gly19979=
• NP_003310.4:p.Gly10914=
• NP_596869.4:p.Gly17411=
• NP_597676.3:p.Gly11039=
• NP_597681.4:p.Gly11106=
• LRG_391:g.243921G>A
• NC_000002.11:g.179456609C>T
• NM_001256850.1:c.55014G>A
• p.Gly17411Gly

This HGVS expression did not pass validation

Links:

dbSNP: rs727505101

NCBI 1000 Genomes Browser:

rs727505101

Molecular consequence:

• NM_001256850.1:c.55014G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001267550.2:c.59937G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003319.4:c.32742G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133378.4:c.52233G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133432.3:c.33117G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133437.4:c.33318G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2