ClinVar

NM_001267550.2(TTN):c.32080G>C (p.Ala10694Pro)

Gene:

TTN:titin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

• Chr2: 178689068 (on Assembly GRCh38)
• Chr2: 179553795 (on Assembly GRCh37)

Preferred name:

NM_001267550.2(TTN):c.32080G>C (p.Ala10694Pro)

HGVS:

• NC_000002.12:g.178689068C>G
• NG_011618.3:g.146735G>C
• NM_001256850.1:c.31129G>C
• NM_001267550.2:c.32080G>CMANE SELECT
• NM_003319.4:c.13283-46751G>C
• NM_133378.4:c.28348G>C
• NM_133432.3:c.13658-46751G>C
• NM_133437.4:c.13859-46751G>C
• NP_001243779.1:p.Ala10377Pro
• NP_001254479.1:p.Ala10694Pro
• NP_001254479.2:p.Ala10694Pro
• NP_596869.4:p.Ala9450Pro
• LRG_391t1:c.32080G>C
• LRG_391:g.146735G>C
• LRG_391p1:p.Ala10694Pro
• NC_000002.11:g.179553795C>G
• NM_001267550.1:c.32080G>C

This HGVS expression did not pass validation

Protein change:

A10377P

Molecular consequence:

• NM_003319.4:c.13283-46751G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_133432.3:c.13658-46751G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_133437.4:c.13859-46751G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001256850.1:c.31129G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267550.2:c.32080G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_133378.4:c.28348G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1