Canonical Allele Identifier: CA349648286

Gene: TTN TTN-AS1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.64453G>T (TTN)	ENSP00000343764.6:p.Val21485Phe
ENST00000342175.11:c.45538G>T (TTN)	ENSP00000340554.6:p.Val15180Phe
ENST00000359218.10:c.45337G>T (TTN)	ENSP00000352154.5:p.Val15113Phe
ENST00000342175.10:c.45538G>T (TTN)	ENSP00000340554.6:p.Val15180Phe
ENST00000342992.10:c.64453G>T (TTN)	ENSP00000343764.6:p.Val21485Phe
ENST00000359218.9:c.45337G>T (TTN)	ENSP00000352154.5:p.Val15113Phe
ENST00000460472.6:c.44962G>T (TTN)	ENSP00000434586.1:p.Val14988Phe
ENST00000589042.5:c.72157G>T (TTN) MANE Select	ENSP00000467141.1:p.Val24053Phe
ENST00000591111.5:c.67234G>T (TTN)	ENSP00000465570.1:p.Val22412Phe
ENST00000615779.4:c.67234G>T (TTN)	ENSP00000483597.1:p.Val22412Phe
NM_001256850.1:c.67234G>T (TTN)	NP_001243779.1:p.Val22412Phe
NM_001267550.2:c.72157G>T (TTN) MANE Select	NP_001254479.2:p.Val24053Phe
NM_003319.4:c.44962G>T (TTN)	NP_003310.4:p.Val14988Phe
NM_133378.4:c.64453G>T (TTN)	NP_596869.4:p.Val21485Phe
NM_133432.3:c.45337G>T (TTN)	NP_597676.3:p.Val15113Phe
NM_133437.4:c.45538G>T (TTN)	NP_597681.4:p.Val15180Phe
NR_038271.1:n.596+2526C>A (TTN-AS1)
NR_038272.1:n.2044-8597C>A (TTN-AS1)
XM_011511729.1:c.71254G>T (TTN)	XP_011510031.1:p.Val23752Phe
XM_011511730.1:c.45148G>T (TTN)	XP_011510032.1:p.Val15050Phe
XM_011511731.1:c.45007G>T (TTN)	XP_011510033.1:p.Val15003Phe
XM_017004819.1:c.71050G>T (TTN)	XP_016860308.1:p.Val23684Phe
XM_017004820.1:c.66448G>T (TTN)	XP_016860309.1:p.Val22150Phe
XM_017004821.1:c.66445G>T (TTN)	XP_016860310.1:p.Val22149Phe
XM_017004822.1:c.63487G>T (TTN)	XP_016860311.1:p.Val21163Phe
XM_017004823.1:c.45103G>T (TTN)	XP_016860312.1:p.Val15035Phe
XM_024453094.1:c.66598G>T (TTN)	XP_024308862.1:p.Val22200Phe
XM_024453095.1:c.66595G>T (TTN)	XP_024308863.1:p.Val22199Phe
XM_024453096.1:c.66028G>T (TTN)	XP_024308864.1:p.Val22010Phe
XM_024453097.1:c.63370G>T (TTN)	XP_024308865.1:p.Val21124Phe
XM_024453098.1:c.63289G>T (TTN)	XP_024308866.1:p.Val21097Phe
XM_024453099.1:c.45052G>T (TTN)	XP_024308867.1:p.Val15018Phe
XM_024453100.1:c.34906G>T (TTN)	XP_024308868.1:p.Val11636Phe