Canonical Allele Identifier: CA1988400

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 264316
• ClinVar RCV Id: RCV000241955 ; RCV000643459 ; RCV002503965 ; RCV003226268
• dbSNP Id: rs769162510
• ExAC: 2:179423212 A / G
• gnomAD v2: 2-179423212-A-G
• gnomAD v3: 2-178558485-A-G
• gnomAD v4: 2-178558485-A-G
• MyVariant Identifiers: chr2:g.179423212A>G (hg19) ; chr2:g.178558485A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178558485A>G , CM000664.2:g.178558485A>G	GRCh38
NC_000002.11:g.179423212A>G , CM000664.1:g.179423212A>G	GRCh37
NC_000002.10:g.179131458A>G	NCBI36
NG_011618.3:g.277318T>C , LRG_391:g.277318T>C
NG_051363.1:g.40659A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.79270T>C (TTN)	ENSP00000343764.6:p.Cys26424Arg
ENST00000342175.11:c.60355T>C (TTN)	ENSP00000340554.6:p.Cys20119Arg
ENST00000359218.10:c.60154T>C (TTN)	ENSP00000352154.5:p.Cys20052Arg
ENST00000342175.10:c.60355T>C (TTN)	ENSP00000340554.6:p.Cys20119Arg
ENST00000342992.10:c.79270T>C (TTN)	ENSP00000343764.6:p.Cys26424Arg
ENST00000359218.9:c.60154T>C (TTN)	ENSP00000352154.5:p.Cys20052Arg
ENST00000460472.6:c.59779T>C (TTN)	ENSP00000434586.1:p.Cys19927Arg
ENST00000589042.5:c.86974T>C (TTN) MANE Select	ENSP00000467141.1:p.Cys28992Arg
ENST00000591111.5:c.82051T>C (TTN)	ENSP00000465570.1:p.Cys27351Arg
ENST00000615779.4:c.82051T>C (TTN)	ENSP00000483597.1:p.Cys27351Arg
NM_001256850.1:c.82051T>C (TTN)	NP_001243779.1:p.Cys27351Arg
NM_001267550.2:c.86974T>C (TTN) MANE Select	NP_001254479.2:p.Cys28992Arg
NM_003319.4:c.59779T>C (TTN)	NP_003310.4:p.Cys19927Arg
NM_133378.4:c.79270T>C (TTN)	NP_596869.4:p.Cys26424Arg
NM_133432.3:c.60154T>C (TTN)	NP_597676.3:p.Cys20052Arg
NM_133437.4:c.60355T>C (TTN)	NP_597681.4:p.Cys20119Arg
NR_038271.1:n.447-12815A>G (TTN-AS1)
NR_038272.1:n.2043+16124A>G (TTN-AS1)
XM_011511729.1:c.86071T>C (TTN)	XP_011510031.1:p.Cys28691Arg
XM_011511730.1:c.59965T>C (TTN)	XP_011510032.1:p.Cys19989Arg
XM_011511731.1:c.59824T>C (TTN)	XP_011510033.1:p.Cys19942Arg
XM_017004819.1:c.85867T>C (TTN)	XP_016860308.1:p.Cys28623Arg
XM_017004820.1:c.81265T>C (TTN)	XP_016860309.1:p.Cys27089Arg
XM_017004821.1:c.81262T>C (TTN)	XP_016860310.1:p.Cys27088Arg
XM_017004822.1:c.78304T>C (TTN)	XP_016860311.1:p.Cys26102Arg
XM_017004823.1:c.59920T>C (TTN)	XP_016860312.1:p.Cys19974Arg
XM_024453094.1:c.81415T>C (TTN)	XP_024308862.1:p.Cys27139Arg
XM_024453095.1:c.81412T>C (TTN)	XP_024308863.1:p.Cys27138Arg
XM_024453096.1:c.80845T>C (TTN)	XP_024308864.1:p.Cys26949Arg
XM_024453097.1:c.78187T>C (TTN)	XP_024308865.1:p.Cys26063Arg
XM_024453098.1:c.78106T>C (TTN)	XP_024308866.1:p.Cys26036Arg
XM_024453099.1:c.59869T>C (TTN)	XP_024308867.1:p.Cys19957Arg
XM_024453100.1:c.49723T>C (TTN)	XP_024308868.1:p.Cys16575Arg