Canonical Allele Identifier: CA349460465

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179410292T>A (hg19) ; chr2:g.178545565T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178545565T>A , CM000664.2:g.178545565T>A	GRCh38
NC_000002.11:g.179410292T>A , CM000664.1:g.179410292T>A	GRCh37
NC_000002.10:g.179118538T>A	NCBI36
NG_011618.3:g.290238A>T , LRG_391:g.290238A>T
NG_051363.1:g.27739T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.87841A>T (TTN)	ENSP00000343764.6:p.Lys29281Ter
ENST00000342175.11:c.68926A>T (TTN)	ENSP00000340554.6:p.Lys22976Ter
ENST00000359218.10:c.68725A>T (TTN)	ENSP00000352154.5:p.Lys22909Ter
ENST00000342175.10:c.68926A>T (TTN)	ENSP00000340554.6:p.Lys22976Ter
ENST00000342992.10:c.87841A>T (TTN)	ENSP00000343764.6:p.Lys29281Ter
ENST00000359218.9:c.68725A>T (TTN)	ENSP00000352154.5:p.Lys22909Ter
ENST00000460472.6:c.68350A>T (TTN)	ENSP00000434586.1:p.Lys22784Ter
ENST00000589042.5:c.95545A>T (TTN) MANE Select	ENSP00000467141.1:p.Lys31849Ter
ENST00000591111.5:c.90622A>T (TTN)	ENSP00000465570.1:p.Lys30208Ter
ENST00000615779.4:c.90622A>T (TTN)	ENSP00000483597.1:p.Lys30208Ter
NM_001256850.1:c.90622A>T (TTN)	NP_001243779.1:p.Lys30208Ter
NM_001267550.2:c.95545A>T (TTN) MANE Select	NP_001254479.2:p.Lys31849Ter
NM_003319.4:c.68350A>T (TTN)	NP_003310.4:p.Lys22784Ter
NM_133378.4:c.87841A>T (TTN)	NP_596869.4:p.Lys29281Ter
NM_133432.3:c.68725A>T (TTN)	NP_597676.3:p.Lys22909Ter
NM_133437.4:c.68926A>T (TTN)	NP_597681.4:p.Lys22976Ter
NR_038271.1:n.446+21929T>A (TTN-AS1)
NR_038272.1:n.2043+3204T>A (TTN-AS1)
XM_011511729.1:c.94642A>T (TTN)	XP_011510031.1:p.Lys31548Ter
XM_011511730.1:c.68536A>T (TTN)	XP_011510032.1:p.Lys22846Ter
XM_011511731.1:c.68395A>T (TTN)	XP_011510033.1:p.Lys22799Ter
XM_017004819.1:c.94438A>T (TTN)	XP_016860308.1:p.Lys31480Ter
XM_017004820.1:c.89836A>T (TTN)	XP_016860309.1:p.Lys29946Ter
XM_017004821.1:c.89833A>T (TTN)	XP_016860310.1:p.Lys29945Ter
XM_017004822.1:c.86875A>T (TTN)	XP_016860311.1:p.Lys28959Ter
XM_017004823.1:c.68491A>T (TTN)	XP_016860312.1:p.Lys22831Ter
XM_024453094.1:c.89986A>T (TTN)	XP_024308862.1:p.Lys29996Ter
XM_024453095.1:c.89983A>T (TTN)	XP_024308863.1:p.Lys29995Ter
XM_024453096.1:c.89416A>T (TTN)	XP_024308864.1:p.Lys29806Ter
XM_024453097.1:c.86758A>T (TTN)	XP_024308865.1:p.Lys28920Ter
XM_024453098.1:c.86677A>T (TTN)	XP_024308866.1:p.Lys28893Ter
XM_024453099.1:c.68440A>T (TTN)	XP_024308867.1:p.Lys22814Ter
XM_024453100.1:c.58294A>T (TTN)	XP_024308868.1:p.Lys19432Ter