Canonical Allele Identifier: CA349512632

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179417391T>G (hg19) ; chr2:g.178552664T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178552664T>G , CM000664.2:g.178552664T>G	GRCh38
NC_000002.11:g.179417391T>G , CM000664.1:g.179417391T>G	GRCh37
NC_000002.10:g.179125637T>G	NCBI36
NG_011618.3:g.283139A>C , LRG_391:g.283139A>C
NG_051363.1:g.34838T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.82532A>C (TTN)	ENSP00000343764.6:p.His27511Pro
ENST00000342175.11:c.63617A>C (TTN)	ENSP00000340554.6:p.His21206Pro
ENST00000359218.10:c.63416A>C (TTN)	ENSP00000352154.5:p.His21139Pro
ENST00000342175.10:c.63617A>C (TTN)	ENSP00000340554.6:p.His21206Pro
ENST00000342992.10:c.82532A>C (TTN)	ENSP00000343764.6:p.His27511Pro
ENST00000359218.9:c.63416A>C (TTN)	ENSP00000352154.5:p.His21139Pro
ENST00000460472.6:c.63041A>C (TTN)	ENSP00000434586.1:p.His21014Pro
ENST00000589042.5:c.90236A>C (TTN) MANE Select	ENSP00000467141.1:p.His30079Pro
ENST00000591111.5:c.85313A>C (TTN)	ENSP00000465570.1:p.His28438Pro
ENST00000615779.4:c.85313A>C (TTN)	ENSP00000483597.1:p.His28438Pro
NM_001256850.1:c.85313A>C (TTN)	NP_001243779.1:p.His28438Pro
NM_001267550.2:c.90236A>C (TTN) MANE Select	NP_001254479.2:p.His30079Pro
NM_003319.4:c.63041A>C (TTN)	NP_003310.4:p.His21014Pro
NM_133378.4:c.82532A>C (TTN)	NP_596869.4:p.His27511Pro
NM_133432.3:c.63416A>C (TTN)	NP_597676.3:p.His21139Pro
NM_133437.4:c.63617A>C (TTN)	NP_597681.4:p.His21206Pro
NR_038271.1:n.447-18636T>G (TTN-AS1)
NR_038272.1:n.2043+10303T>G (TTN-AS1)
XM_011511729.1:c.89333A>C (TTN)	XP_011510031.1:p.His29778Pro
XM_011511730.1:c.63227A>C (TTN)	XP_011510032.1:p.His21076Pro
XM_011511731.1:c.63086A>C (TTN)	XP_011510033.1:p.His21029Pro
XM_017004819.1:c.89129A>C (TTN)	XP_016860308.1:p.His29710Pro
XM_017004820.1:c.84527A>C (TTN)	XP_016860309.1:p.His28176Pro
XM_017004821.1:c.84524A>C (TTN)	XP_016860310.1:p.His28175Pro
XM_017004822.1:c.81566A>C (TTN)	XP_016860311.1:p.His27189Pro
XM_017004823.1:c.63182A>C (TTN)	XP_016860312.1:p.His21061Pro
XM_024453094.1:c.84677A>C (TTN)	XP_024308862.1:p.His28226Pro
XM_024453095.1:c.84674A>C (TTN)	XP_024308863.1:p.His28225Pro
XM_024453096.1:c.84107A>C (TTN)	XP_024308864.1:p.His28036Pro
XM_024453097.1:c.81449A>C (TTN)	XP_024308865.1:p.His27150Pro
XM_024453098.1:c.81368A>C (TTN)	XP_024308866.1:p.His27123Pro
XM_024453099.1:c.63131A>C (TTN)	XP_024308867.1:p.His21044Pro
XM_024453100.1:c.52985A>C (TTN)	XP_024308868.1:p.His17662Pro