ClinVar

NM_001267550.2(TTN):c.68196G>A (p.Ser22732=)

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: 178578834 (on Assembly GRCh38)
• Chr2: 179443561 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.68196G>A (p.Ser22732=)

HGVS:

• NC_000002.12:g.178578834C>T
• NG_011618.3:g.256969G>A
• NG_051363.1:g.61008C>T
• NM_001256850.1:c.63273G>A
• NM_001267550.2:c.68196G>AMANE SELECT
• NM_003319.4:c.41001G>A
• NM_133378.4:c.60492G>A
• NM_133432.3:c.41376G>A
• NM_133437.4:c.41577G>A
• NP_001243779.1:p.Ser21091=
• NP_001254479.2:p.Ser22732=
• NP_003310.4:p.Ser13667=
• NP_596869.4:p.Ser20164=
• NP_597676.3:p.Ser13792=
• NP_597681.4:p.Ser13859=
• LRG_391:g.256969G>A
• NC_000002.11:g.179443561C>T
• NM_001256850.1:c.63273G>A
• NM_003319.4:c.41001G>A
• c.60492G>A
• p.Ser20164Ser

This HGVS expression did not pass validation

Links:

dbSNP: rs397517674

NCBI 1000 Genomes Browser:

rs397517674

Molecular consequence:

• NM_001256850.1:c.63273G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001267550.2:c.68196G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003319.4:c.41001G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133378.4:c.60492G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133432.3:c.41376G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133437.4:c.41577G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2