Canonical Allele Identifier: CA349658708

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179439622A>T (hg19) ; chr2:g.178574895A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178574895A>T , CM000664.2:g.178574895A>T	GRCh38
NC_000002.11:g.179439622A>T , CM000664.1:g.179439622A>T	GRCh37
NC_000002.10:g.179147868A>T	NCBI36
NG_011618.3:g.260908T>A , LRG_391:g.260908T>A
NG_051363.1:g.57069A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.63533T>A (TTN)	ENSP00000343764.6:p.Phe21178Tyr
ENST00000342175.11:c.44618T>A (TTN)	ENSP00000340554.6:p.Phe14873Tyr
ENST00000359218.10:c.44417T>A (TTN)	ENSP00000352154.5:p.Phe14806Tyr
ENST00000342175.10:c.44618T>A (TTN)	ENSP00000340554.6:p.Phe14873Tyr
ENST00000342992.10:c.63533T>A (TTN)	ENSP00000343764.6:p.Phe21178Tyr
ENST00000359218.9:c.44417T>A (TTN)	ENSP00000352154.5:p.Phe14806Tyr
ENST00000460472.6:c.44042T>A (TTN)	ENSP00000434586.1:p.Phe14681Tyr
ENST00000589042.5:c.71237T>A (TTN) MANE Select	ENSP00000467141.1:p.Phe23746Tyr
ENST00000591111.5:c.66314T>A (TTN)	ENSP00000465570.1:p.Phe22105Tyr
ENST00000615779.4:c.66314T>A (TTN)	ENSP00000483597.1:p.Phe22105Tyr
NM_001256850.1:c.66314T>A (TTN)	NP_001243779.1:p.Phe22105Tyr
NM_001267550.2:c.71237T>A (TTN) MANE Select	NP_001254479.2:p.Phe23746Tyr
NM_003319.4:c.44042T>A (TTN)	NP_003310.4:p.Phe14681Tyr
NM_133378.4:c.63533T>A (TTN)	NP_596869.4:p.Phe21178Tyr
NM_133432.3:c.44417T>A (TTN)	NP_597676.3:p.Phe14806Tyr
NM_133437.4:c.44618T>A (TTN)	NP_597681.4:p.Phe14873Tyr
NR_038271.1:n.596+3446A>T (TTN-AS1)
NR_038272.1:n.2044-7677A>T (TTN-AS1)
XM_011511729.1:c.70334T>A (TTN)	XP_011510031.1:p.Phe23445Tyr
XM_011511730.1:c.44228T>A (TTN)	XP_011510032.1:p.Phe14743Tyr
XM_011511731.1:c.44087T>A (TTN)	XP_011510033.1:p.Phe14696Tyr
XM_017004819.1:c.70130T>A (TTN)	XP_016860308.1:p.Phe23377Tyr
XM_017004820.1:c.65528T>A (TTN)	XP_016860309.1:p.Phe21843Tyr
XM_017004821.1:c.65525T>A (TTN)	XP_016860310.1:p.Phe21842Tyr
XM_017004822.1:c.62567T>A (TTN)	XP_016860311.1:p.Phe20856Tyr
XM_017004823.1:c.44183T>A (TTN)	XP_016860312.1:p.Phe14728Tyr
XM_024453094.1:c.65678T>A (TTN)	XP_024308862.1:p.Phe21893Tyr
XM_024453095.1:c.65675T>A (TTN)	XP_024308863.1:p.Phe21892Tyr
XM_024453096.1:c.65108T>A (TTN)	XP_024308864.1:p.Phe21703Tyr
XM_024453097.1:c.62450T>A (TTN)	XP_024308865.1:p.Phe20817Tyr
XM_024453098.1:c.62369T>A (TTN)	XP_024308866.1:p.Phe20790Tyr
XM_024453099.1:c.44132T>A (TTN)	XP_024308867.1:p.Phe14711Tyr
XM_024453100.1:c.33986T>A (TTN)	XP_024308868.1:p.Phe11329Tyr