Canonical Allele Identifier: CA349568267

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1484367786
• gnomAD v2: 2-179472313-A-T
• gnomAD v4: 2-178607586-A-T
• MyVariant Identifiers: chr2:g.179472313A>T (hg19) ; chr2:g.178607586A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178607586A>T , CM000664.2:g.178607586A>T	GRCh38
NC_000002.11:g.179472313A>T , CM000664.1:g.179472313A>T	GRCh37
NC_000002.10:g.179180558A>T	NCBI36
NG_011618.3:g.228217T>A , LRG_391:g.228217T>A
NG_051363.1:g.89760A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.45398T>A (TTN)	ENSP00000343764.6:p.Val15133Glu
ENST00000342175.11:c.26483T>A (TTN)	ENSP00000340554.6:p.Val8828Glu
ENST00000359218.10:c.26282T>A (TTN)	ENSP00000352154.5:p.Val8761Glu
ENST00000342175.10:c.26483T>A (TTN)	ENSP00000340554.6:p.Val8828Glu
ENST00000342992.10:c.45398T>A (TTN)	ENSP00000343764.6:p.Val15133Glu
ENST00000359218.9:c.26282T>A (TTN)	ENSP00000352154.5:p.Val8761Glu
ENST00000460472.6:c.25907T>A (TTN)	ENSP00000434586.1:p.Val8636Glu
ENST00000589042.5:c.53102T>A (TTN) MANE Select	ENSP00000467141.1:p.Val17701Glu
ENST00000591111.5:c.48179T>A (TTN)	ENSP00000465570.1:p.Val16060Glu
ENST00000615779.4:c.48179T>A (TTN)	ENSP00000483597.1:p.Val16060Glu
NM_001256850.1:c.48179T>A (TTN)	NP_001243779.1:p.Val16060Glu
NM_001267550.2:c.53102T>A (TTN) MANE Select	NP_001254479.2:p.Val17701Glu
NM_003319.4:c.25907T>A (TTN)	NP_003310.4:p.Val8636Glu
NM_133378.4:c.45398T>A (TTN)	NP_596869.4:p.Val15133Glu
NM_133432.3:c.26282T>A (TTN)	NP_597676.3:p.Val8761Glu
NM_133437.4:c.26483T>A (TTN)	NP_597681.4:p.Val8828Glu
NR_038271.1:n.683-581A>T (TTN-AS1)
XM_011511729.1:c.52199T>A (TTN)	XP_011510031.1:p.Val17400Glu
XM_011511730.1:c.26093T>A (TTN)	XP_011510032.1:p.Val8698Glu
XM_011511731.1:c.25952T>A (TTN)	XP_011510033.1:p.Val8651Glu
XM_017004819.1:c.51995T>A (TTN)	XP_016860308.1:p.Val17332Glu
XM_017004820.1:c.47393T>A (TTN)	XP_016860309.1:p.Val15798Glu
XM_017004821.1:c.47390T>A (TTN)	XP_016860310.1:p.Val15797Glu
XM_017004822.1:c.44432T>A (TTN)	XP_016860311.1:p.Val14811Glu
XM_017004823.1:c.26048T>A (TTN)	XP_016860312.1:p.Val8683Glu
XM_024453094.1:c.47543T>A (TTN)	XP_024308862.1:p.Val15848Glu
XM_024453095.1:c.47540T>A (TTN)	XP_024308863.1:p.Val15847Glu
XM_024453096.1:c.46973T>A (TTN)	XP_024308864.1:p.Val15658Glu
XM_024453097.1:c.44315T>A (TTN)	XP_024308865.1:p.Val14772Glu
XM_024453098.1:c.44234T>A (TTN)	XP_024308866.1:p.Val14745Glu
XM_024453099.1:c.25997T>A (TTN)	XP_024308867.1:p.Val8666Glu
XM_024453100.1:c.15851T>A (TTN)	XP_024308868.1:p.Val5284Glu