Canonical Allele Identifier: CA349505181

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179416667G>T (hg19) ; chr2:g.178551940G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178551940G>T , CM000664.2:g.178551940G>T	GRCh38
NC_000002.11:g.179416667G>T , CM000664.1:g.179416667G>T	GRCh37
NC_000002.10:g.179124913G>T	NCBI36
NG_011618.3:g.283863C>A , LRG_391:g.283863C>A
NG_051363.1:g.34114G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.83256C>A (TTN)	ENSP00000343764.6:p.His27752Gln
ENST00000342175.11:c.64341C>A (TTN)	ENSP00000340554.6:p.His21447Gln
ENST00000359218.10:c.64140C>A (TTN)	ENSP00000352154.5:p.His21380Gln
ENST00000342175.10:c.64341C>A (TTN)	ENSP00000340554.6:p.His21447Gln
ENST00000342992.10:c.83256C>A (TTN)	ENSP00000343764.6:p.His27752Gln
ENST00000359218.9:c.64140C>A (TTN)	ENSP00000352154.5:p.His21380Gln
ENST00000460472.6:c.63765C>A (TTN)	ENSP00000434586.1:p.His21255Gln
ENST00000589042.5:c.90960C>A (TTN) MANE Select	ENSP00000467141.1:p.His30320Gln
ENST00000591111.5:c.86037C>A (TTN)	ENSP00000465570.1:p.His28679Gln
ENST00000615779.4:c.86037C>A (TTN)	ENSP00000483597.1:p.His28679Gln
NM_001256850.1:c.86037C>A (TTN)	NP_001243779.1:p.His28679Gln
NM_001267550.2:c.90960C>A (TTN) MANE Select	NP_001254479.2:p.His30320Gln
NM_003319.4:c.63765C>A (TTN)	NP_003310.4:p.His21255Gln
NM_133378.4:c.83256C>A (TTN)	NP_596869.4:p.His27752Gln
NM_133432.3:c.64140C>A (TTN)	NP_597676.3:p.His21380Gln
NM_133437.4:c.64341C>A (TTN)	NP_597681.4:p.His21447Gln
NR_038271.1:n.447-19360G>T (TTN-AS1)
NR_038272.1:n.2043+9579G>T (TTN-AS1)
XM_011511729.1:c.90057C>A (TTN)	XP_011510031.1:p.His30019Gln
XM_011511730.1:c.63951C>A (TTN)	XP_011510032.1:p.His21317Gln
XM_011511731.1:c.63810C>A (TTN)	XP_011510033.1:p.His21270Gln
XM_017004819.1:c.89853C>A (TTN)	XP_016860308.1:p.His29951Gln
XM_017004820.1:c.85251C>A (TTN)	XP_016860309.1:p.His28417Gln
XM_017004821.1:c.85248C>A (TTN)	XP_016860310.1:p.His28416Gln
XM_017004822.1:c.82290C>A (TTN)	XP_016860311.1:p.His27430Gln
XM_017004823.1:c.63906C>A (TTN)	XP_016860312.1:p.His21302Gln
XM_024453094.1:c.85401C>A (TTN)	XP_024308862.1:p.His28467Gln
XM_024453095.1:c.85398C>A (TTN)	XP_024308863.1:p.His28466Gln
XM_024453096.1:c.84831C>A (TTN)	XP_024308864.1:p.His28277Gln
XM_024453097.1:c.82173C>A (TTN)	XP_024308865.1:p.His27391Gln
XM_024453098.1:c.82092C>A (TTN)	XP_024308866.1:p.His27364Gln
XM_024453099.1:c.63855C>A (TTN)	XP_024308867.1:p.His21285Gln
XM_024453100.1:c.53709C>A (TTN)	XP_024308868.1:p.His17903Gln