Canonical Allele Identifier: CA349648284

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178573974-A-T
• MyVariant Identifiers: chr2:g.179438701A>T (hg19) ; chr2:g.178573974A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178573974A>T , CM000664.2:g.178573974A>T	GRCh38
NC_000002.11:g.179438701A>T , CM000664.1:g.179438701A>T	GRCh37
NC_000002.10:g.179146947A>T	NCBI36
NG_011618.3:g.261829T>A , LRG_391:g.261829T>A
NG_051363.1:g.56148A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.64454T>A (TTN)	ENSP00000343764.6:p.Val21485Asp
ENST00000342175.11:c.45539T>A (TTN)	ENSP00000340554.6:p.Val15180Asp
ENST00000359218.10:c.45338T>A (TTN)	ENSP00000352154.5:p.Val15113Asp
ENST00000342175.10:c.45539T>A (TTN)	ENSP00000340554.6:p.Val15180Asp
ENST00000342992.10:c.64454T>A (TTN)	ENSP00000343764.6:p.Val21485Asp
ENST00000359218.9:c.45338T>A (TTN)	ENSP00000352154.5:p.Val15113Asp
ENST00000460472.6:c.44963T>A (TTN)	ENSP00000434586.1:p.Val14988Asp
ENST00000589042.5:c.72158T>A (TTN) MANE Select	ENSP00000467141.1:p.Val24053Asp
ENST00000591111.5:c.67235T>A (TTN)	ENSP00000465570.1:p.Val22412Asp
ENST00000615779.4:c.67235T>A (TTN)	ENSP00000483597.1:p.Val22412Asp
NM_001256850.1:c.67235T>A (TTN)	NP_001243779.1:p.Val22412Asp
NM_001267550.2:c.72158T>A (TTN) MANE Select	NP_001254479.2:p.Val24053Asp
NM_003319.4:c.44963T>A (TTN)	NP_003310.4:p.Val14988Asp
NM_133378.4:c.64454T>A (TTN)	NP_596869.4:p.Val21485Asp
NM_133432.3:c.45338T>A (TTN)	NP_597676.3:p.Val15113Asp
NM_133437.4:c.45539T>A (TTN)	NP_597681.4:p.Val15180Asp
NR_038271.1:n.596+2525A>T (TTN-AS1)
NR_038272.1:n.2044-8598A>T (TTN-AS1)
XM_011511729.1:c.71255T>A (TTN)	XP_011510031.1:p.Val23752Asp
XM_011511730.1:c.45149T>A (TTN)	XP_011510032.1:p.Val15050Asp
XM_011511731.1:c.45008T>A (TTN)	XP_011510033.1:p.Val15003Asp
XM_017004819.1:c.71051T>A (TTN)	XP_016860308.1:p.Val23684Asp
XM_017004820.1:c.66449T>A (TTN)	XP_016860309.1:p.Val22150Asp
XM_017004821.1:c.66446T>A (TTN)	XP_016860310.1:p.Val22149Asp
XM_017004822.1:c.63488T>A (TTN)	XP_016860311.1:p.Val21163Asp
XM_017004823.1:c.45104T>A (TTN)	XP_016860312.1:p.Val15035Asp
XM_024453094.1:c.66599T>A (TTN)	XP_024308862.1:p.Val22200Asp
XM_024453095.1:c.66596T>A (TTN)	XP_024308863.1:p.Val22199Asp
XM_024453096.1:c.66029T>A (TTN)	XP_024308864.1:p.Val22010Asp
XM_024453097.1:c.63371T>A (TTN)	XP_024308865.1:p.Val21124Asp
XM_024453098.1:c.63290T>A (TTN)	XP_024308866.1:p.Val21097Asp
XM_024453099.1:c.45053T>A (TTN)	XP_024308867.1:p.Val15018Asp
XM_024453100.1:c.34907T>A (TTN)	XP_024308868.1:p.Val11636Asp