Canonical Allele Identifier: CA349445814

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179407990T>A (hg19) ; chr2:g.178543263T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543263T>A , CM000664.2:g.178543263T>A	GRCh38
NC_000002.11:g.179407990T>A , CM000664.1:g.179407990T>A	GRCh37
NC_000002.10:g.179116236T>A	NCBI36
NG_011618.3:g.292540A>T , LRG_391:g.292540A>T
NG_051363.1:g.25437T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.89006A>T (TTN)	ENSP00000343764.6:p.Tyr29669Phe
ENST00000342175.11:c.70091A>T (TTN)	ENSP00000340554.6:p.Tyr23364Phe
ENST00000359218.10:c.69890A>T (TTN)	ENSP00000352154.5:p.Tyr23297Phe
ENST00000342175.10:c.70091A>T (TTN)	ENSP00000340554.6:p.Tyr23364Phe
ENST00000342992.10:c.89006A>T (TTN)	ENSP00000343764.6:p.Tyr29669Phe
ENST00000359218.9:c.69890A>T (TTN)	ENSP00000352154.5:p.Tyr23297Phe
ENST00000460472.6:c.69515A>T (TTN)	ENSP00000434586.1:p.Tyr23172Phe
ENST00000589042.5:c.96710A>T (TTN) MANE Select	ENSP00000467141.1:p.Tyr32237Phe
ENST00000591111.5:c.91787A>T (TTN)	ENSP00000465570.1:p.Tyr30596Phe
ENST00000615779.4:c.91787A>T (TTN)	ENSP00000483597.1:p.Tyr30596Phe
NM_001256850.1:c.91787A>T (TTN)	NP_001243779.1:p.Tyr30596Phe
NM_001267550.2:c.96710A>T (TTN) MANE Select	NP_001254479.2:p.Tyr32237Phe
NM_003319.4:c.69515A>T (TTN)	NP_003310.4:p.Tyr23172Phe
NM_133378.4:c.89006A>T (TTN)	NP_596869.4:p.Tyr29669Phe
NM_133432.3:c.69890A>T (TTN)	NP_597676.3:p.Tyr23297Phe
NM_133437.4:c.70091A>T (TTN)	NP_597681.4:p.Tyr23364Phe
NR_038271.1:n.446+19627T>A (TTN-AS1)
NR_038272.1:n.2043+902T>A (TTN-AS1)
XM_011511729.1:c.95807A>T (TTN)	XP_011510031.1:p.Tyr31936Phe
XM_011511730.1:c.69701A>T (TTN)	XP_011510032.1:p.Tyr23234Phe
XM_011511731.1:c.69560A>T (TTN)	XP_011510033.1:p.Tyr23187Phe
XM_017004819.1:c.95603A>T (TTN)	XP_016860308.1:p.Tyr31868Phe
XM_017004820.1:c.91001A>T (TTN)	XP_016860309.1:p.Tyr30334Phe
XM_017004821.1:c.90998A>T (TTN)	XP_016860310.1:p.Tyr30333Phe
XM_017004822.1:c.88040A>T (TTN)	XP_016860311.1:p.Tyr29347Phe
XM_017004823.1:c.69656A>T (TTN)	XP_016860312.1:p.Tyr23219Phe
XM_024453094.1:c.91151A>T (TTN)	XP_024308862.1:p.Tyr30384Phe
XM_024453095.1:c.91148A>T (TTN)	XP_024308863.1:p.Tyr30383Phe
XM_024453096.1:c.90581A>T (TTN)	XP_024308864.1:p.Tyr30194Phe
XM_024453097.1:c.87923A>T (TTN)	XP_024308865.1:p.Tyr29308Phe
XM_024453098.1:c.87842A>T (TTN)	XP_024308866.1:p.Tyr29281Phe
XM_024453099.1:c.69605A>T (TTN)	XP_024308867.1:p.Tyr23202Phe
XM_024453100.1:c.59459A>T (TTN)	XP_024308868.1:p.Tyr19820Phe