Canonical Allele Identifier: CA1993837

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 518150
• ClinVar RCV Id: RCV001430454 ; RCV002431829
• dbSNP Id: rs376469717
• ExAC: 2:179472186 C / T
• gnomAD v2: 2-179472186-C-T
• gnomAD v3: 2-178607459-C-T
• gnomAD v4: 2-178607459-C-T
• MyVariant Identifiers: chr2:g.179472186C>T (hg19) ; chr2:g.178607459C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178607459C>T , CM000664.2:g.178607459C>T	GRCh38
NC_000002.11:g.179472186C>T , CM000664.1:g.179472186C>T	GRCh37
NC_000002.10:g.179180431C>T	NCBI36
NG_011618.3:g.228344G>A , LRG_391:g.228344G>A
NG_051363.1:g.89633C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.45525G>A (TTN)	ENSP00000343764.6:p.Val15175=
ENST00000342175.11:c.26610G>A (TTN)	ENSP00000340554.6:p.Val8870=
ENST00000359218.10:c.26409G>A (TTN)	ENSP00000352154.5:p.Val8803=
ENST00000342175.10:c.26610G>A (TTN)	ENSP00000340554.6:p.Val8870=
ENST00000342992.10:c.45525G>A (TTN)	ENSP00000343764.6:p.Val15175=
ENST00000359218.9:c.26409G>A (TTN)	ENSP00000352154.5:p.Val8803=
ENST00000460472.6:c.26034G>A (TTN)	ENSP00000434586.1:p.Val8678=
ENST00000589042.5:c.53229G>A (TTN) MANE Select	ENSP00000467141.1:p.Val17743=
ENST00000591111.5:c.48306G>A (TTN)	ENSP00000465570.1:p.Val16102=
ENST00000615779.4:c.48306G>A (TTN)	ENSP00000483597.1:p.Val16102=
NM_001256850.1:c.48306G>A (TTN)	NP_001243779.1:p.Val16102=
NM_001267550.2:c.53229G>A (TTN) MANE Select	NP_001254479.2:p.Val17743=
NM_003319.4:c.26034G>A (TTN)	NP_003310.4:p.Val8678=
NM_133378.4:c.45525G>A (TTN)	NP_596869.4:p.Val15175=
NM_133432.3:c.26409G>A (TTN)	NP_597676.3:p.Val8803=
NM_133437.4:c.26610G>A (TTN)	NP_597681.4:p.Val8870=
NR_038271.1:n.683-708C>T (TTN-AS1)
XM_011511729.1:c.52326G>A (TTN)	XP_011510031.1:p.Val17442=
XM_011511730.1:c.26220G>A (TTN)	XP_011510032.1:p.Val8740=
XM_011511731.1:c.26079G>A (TTN)	XP_011510033.1:p.Val8693=
XM_017004819.1:c.52122G>A (TTN)	XP_016860308.1:p.Val17374=
XM_017004820.1:c.47520G>A (TTN)	XP_016860309.1:p.Val15840=
XM_017004821.1:c.47517G>A (TTN)	XP_016860310.1:p.Val15839=
XM_017004822.1:c.44559G>A (TTN)	XP_016860311.1:p.Val14853=
XM_017004823.1:c.26175G>A (TTN)	XP_016860312.1:p.Val8725=
XM_024453094.1:c.47670G>A (TTN)	XP_024308862.1:p.Val15890=
XM_024453095.1:c.47667G>A (TTN)	XP_024308863.1:p.Val15889=
XM_024453096.1:c.47100G>A (TTN)	XP_024308864.1:p.Val15700=
XM_024453097.1:c.44442G>A (TTN)	XP_024308865.1:p.Val14814=
XM_024453098.1:c.44361G>A (TTN)	XP_024308866.1:p.Val14787=
XM_024453099.1:c.26124G>A (TTN)	XP_024308867.1:p.Val8708=
XM_024453100.1:c.15978G>A (TTN)	XP_024308868.1:p.Val5326=