Canonical Allele Identifier: CA349648288

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179438702C>G (hg19) ; chr2:g.178573975C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178573975C>G , CM000664.2:g.178573975C>G	GRCh38
NC_000002.11:g.179438702C>G , CM000664.1:g.179438702C>G	GRCh37
NC_000002.10:g.179146948C>G	NCBI36
NG_011618.3:g.261828G>C , LRG_391:g.261828G>C
NG_051363.1:g.56149C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.64453G>C (TTN)	ENSP00000343764.6:p.Val21485Leu
ENST00000342175.11:c.45538G>C (TTN)	ENSP00000340554.6:p.Val15180Leu
ENST00000359218.10:c.45337G>C (TTN)	ENSP00000352154.5:p.Val15113Leu
ENST00000342175.10:c.45538G>C (TTN)	ENSP00000340554.6:p.Val15180Leu
ENST00000342992.10:c.64453G>C (TTN)	ENSP00000343764.6:p.Val21485Leu
ENST00000359218.9:c.45337G>C (TTN)	ENSP00000352154.5:p.Val15113Leu
ENST00000460472.6:c.44962G>C (TTN)	ENSP00000434586.1:p.Val14988Leu
ENST00000589042.5:c.72157G>C (TTN) MANE Select	ENSP00000467141.1:p.Val24053Leu
ENST00000591111.5:c.67234G>C (TTN)	ENSP00000465570.1:p.Val22412Leu
ENST00000615779.4:c.67234G>C (TTN)	ENSP00000483597.1:p.Val22412Leu
NM_001256850.1:c.67234G>C (TTN)	NP_001243779.1:p.Val22412Leu
NM_001267550.2:c.72157G>C (TTN) MANE Select	NP_001254479.2:p.Val24053Leu
NM_003319.4:c.44962G>C (TTN)	NP_003310.4:p.Val14988Leu
NM_133378.4:c.64453G>C (TTN)	NP_596869.4:p.Val21485Leu
NM_133432.3:c.45337G>C (TTN)	NP_597676.3:p.Val15113Leu
NM_133437.4:c.45538G>C (TTN)	NP_597681.4:p.Val15180Leu
NR_038271.1:n.596+2526C>G (TTN-AS1)
NR_038272.1:n.2044-8597C>G (TTN-AS1)
XM_011511729.1:c.71254G>C (TTN)	XP_011510031.1:p.Val23752Leu
XM_011511730.1:c.45148G>C (TTN)	XP_011510032.1:p.Val15050Leu
XM_011511731.1:c.45007G>C (TTN)	XP_011510033.1:p.Val15003Leu
XM_017004819.1:c.71050G>C (TTN)	XP_016860308.1:p.Val23684Leu
XM_017004820.1:c.66448G>C (TTN)	XP_016860309.1:p.Val22150Leu
XM_017004821.1:c.66445G>C (TTN)	XP_016860310.1:p.Val22149Leu
XM_017004822.1:c.63487G>C (TTN)	XP_016860311.1:p.Val21163Leu
XM_017004823.1:c.45103G>C (TTN)	XP_016860312.1:p.Val15035Leu
XM_024453094.1:c.66598G>C (TTN)	XP_024308862.1:p.Val22200Leu
XM_024453095.1:c.66595G>C (TTN)	XP_024308863.1:p.Val22199Leu
XM_024453096.1:c.66028G>C (TTN)	XP_024308864.1:p.Val22010Leu
XM_024453097.1:c.63370G>C (TTN)	XP_024308865.1:p.Val21124Leu
XM_024453098.1:c.63289G>C (TTN)	XP_024308866.1:p.Val21097Leu
XM_024453099.1:c.45052G>C (TTN)	XP_024308867.1:p.Val15018Leu
XM_024453100.1:c.34906G>C (TTN)	XP_024308868.1:p.Val11636Leu