Canonical Allele Identifier: CA60956092

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 2090006
• ClinVar RCV Id: RCV003005745
• dbSNP Id: rs918709607
• gnomAD v2: 2-179396759-A-G
• gnomAD v4: 2-178532032-A-G
• MyVariant Identifiers: chr2:g.179396759A>G (hg19) ; chr2:g.178532032A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532032A>G , CM000664.2:g.178532032A>G	GRCh38
NC_000002.11:g.179396759A>G , CM000664.1:g.179396759A>G	GRCh37
NC_000002.10:g.179105005A>G	NCBI36
NG_011618.3:g.303771T>C , LRG_391:g.303771T>C
NG_051363.1:g.14206A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96879T>C (TTN)	ENSP00000343764.6:p.Arg32293=
ENST00000342175.11:c.77964T>C (TTN)	ENSP00000340554.6:p.Arg25988=
ENST00000359218.10:c.77763T>C (TTN)	ENSP00000352154.5:p.Arg25921=
ENST00000342175.10:c.77964T>C (TTN)	ENSP00000340554.6:p.Arg25988=
ENST00000342992.10:c.96879T>C (TTN)	ENSP00000343764.6:p.Arg32293=
ENST00000359218.9:c.77763T>C (TTN)	ENSP00000352154.5:p.Arg25921=
ENST00000460472.6:c.77388T>C (TTN)	ENSP00000434586.1:p.Arg25796=
ENST00000589042.5:c.104583T>C (TTN) MANE Select	ENSP00000467141.1:p.Arg34861=
ENST00000591111.5:c.99660T>C (TTN)	ENSP00000465570.1:p.Arg33220=
ENST00000615779.4:c.99660T>C (TTN)	ENSP00000483597.1:p.Arg33220=
NM_001256850.1:c.99660T>C (TTN)	NP_001243779.1:p.Arg33220=
NM_001267550.2:c.104583T>C (TTN) MANE Select	NP_001254479.2:p.Arg34861=
NM_003319.4:c.77388T>C (TTN)	NP_003310.4:p.Arg25796=
NM_133378.4:c.96879T>C (TTN)	NP_596869.4:p.Arg32293=
NM_133432.3:c.77763T>C (TTN)	NP_597676.3:p.Arg25921=
NM_133437.4:c.77964T>C (TTN)	NP_597681.4:p.Arg25988=
NR_038271.1:n.446+8396A>G (TTN-AS1)
NR_038272.1:n.220-3700A>G (TTN-AS1)
XM_011511729.1:c.103680T>C (TTN)	XP_011510031.1:p.Arg34560=
XM_011511730.1:c.77574T>C (TTN)	XP_011510032.1:p.Arg25858=
XM_011511731.1:c.77433T>C (TTN)	XP_011510033.1:p.Arg25811=
XM_017004819.1:c.103476T>C (TTN)	XP_016860308.1:p.Arg34492=
XM_017004820.1:c.98874T>C (TTN)	XP_016860309.1:p.Arg32958=
XM_017004821.1:c.98871T>C (TTN)	XP_016860310.1:p.Arg32957=
XM_017004822.1:c.95913T>C (TTN)	XP_016860311.1:p.Arg31971=
XM_017004823.1:c.77529T>C (TTN)	XP_016860312.1:p.Arg25843=
XM_024453094.1:c.99024T>C (TTN)	XP_024308862.1:p.Arg33008=
XM_024453095.1:c.99021T>C (TTN)	XP_024308863.1:p.Arg33007=
XM_024453096.1:c.98454T>C (TTN)	XP_024308864.1:p.Arg32818=
XM_024453097.1:c.95796T>C (TTN)	XP_024308865.1:p.Arg31932=
XM_024453098.1:c.95715T>C (TTN)	XP_024308866.1:p.Arg31905=
XM_024453099.1:c.77478T>C (TTN)	XP_024308867.1:p.Arg25826=
XM_024453100.1:c.67332T>C (TTN)	XP_024308868.1:p.Arg22444=