Canonical Allele Identifier: CA349495596

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178549779-C-T
• MyVariant Identifiers: chr2:g.179414506C>T (hg19) ; chr2:g.178549779C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178549779C>T , CM000664.2:g.178549779C>T	GRCh38
NC_000002.11:g.179414506C>T , CM000664.1:g.179414506C>T	GRCh37
NC_000002.10:g.179122752C>T	NCBI36
NG_011618.3:g.286024G>A , LRG_391:g.286024G>A
NG_051363.1:g.31953C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.84239G>A (TTN)	ENSP00000343764.6:p.Gly28080Asp
ENST00000342175.11:c.65324G>A (TTN)	ENSP00000340554.6:p.Gly21775Asp
ENST00000359218.10:c.65123G>A (TTN)	ENSP00000352154.5:p.Gly21708Asp
ENST00000342175.10:c.65324G>A (TTN)	ENSP00000340554.6:p.Gly21775Asp
ENST00000342992.10:c.84239G>A (TTN)	ENSP00000343764.6:p.Gly28080Asp
ENST00000359218.9:c.65123G>A (TTN)	ENSP00000352154.5:p.Gly21708Asp
ENST00000460472.6:c.64748G>A (TTN)	ENSP00000434586.1:p.Gly21583Asp
ENST00000589042.5:c.91943G>A (TTN) MANE Select	ENSP00000467141.1:p.Gly30648Asp
ENST00000591111.5:c.87020G>A (TTN)	ENSP00000465570.1:p.Gly29007Asp
ENST00000615779.4:c.87020G>A (TTN)	ENSP00000483597.1:p.Gly29007Asp
NM_001256850.1:c.87020G>A (TTN)	NP_001243779.1:p.Gly29007Asp
NM_001267550.2:c.91943G>A (TTN) MANE Select	NP_001254479.2:p.Gly30648Asp
NM_003319.4:c.64748G>A (TTN)	NP_003310.4:p.Gly21583Asp
NM_133378.4:c.84239G>A (TTN)	NP_596869.4:p.Gly28080Asp
NM_133432.3:c.65123G>A (TTN)	NP_597676.3:p.Gly21708Asp
NM_133437.4:c.65324G>A (TTN)	NP_597681.4:p.Gly21775Asp
NR_038271.1:n.447-21521C>T (TTN-AS1)
NR_038272.1:n.2043+7418C>T (TTN-AS1)
XM_011511729.1:c.91040G>A (TTN)	XP_011510031.1:p.Gly30347Asp
XM_011511730.1:c.64934G>A (TTN)	XP_011510032.1:p.Gly21645Asp
XM_011511731.1:c.64793G>A (TTN)	XP_011510033.1:p.Gly21598Asp
XM_017004819.1:c.90836G>A (TTN)	XP_016860308.1:p.Gly30279Asp
XM_017004820.1:c.86234G>A (TTN)	XP_016860309.1:p.Gly28745Asp
XM_017004821.1:c.86231G>A (TTN)	XP_016860310.1:p.Gly28744Asp
XM_017004822.1:c.83273G>A (TTN)	XP_016860311.1:p.Gly27758Asp
XM_017004823.1:c.64889G>A (TTN)	XP_016860312.1:p.Gly21630Asp
XM_024453094.1:c.86384G>A (TTN)	XP_024308862.1:p.Gly28795Asp
XM_024453095.1:c.86381G>A (TTN)	XP_024308863.1:p.Gly28794Asp
XM_024453096.1:c.85814G>A (TTN)	XP_024308864.1:p.Gly28605Asp
XM_024453097.1:c.83156G>A (TTN)	XP_024308865.1:p.Gly27719Asp
XM_024453098.1:c.83075G>A (TTN)	XP_024308866.1:p.Gly27692Asp
XM_024453099.1:c.64838G>A (TTN)	XP_024308867.1:p.Gly21613Asp
XM_024453100.1:c.54692G>A (TTN)	XP_024308868.1:p.Gly18231Asp