Canonical Allele Identifier: CA349407273

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179395350T>G (hg19) ; chr2:g.178530623T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530623T>G , CM000664.2:g.178530623T>G	GRCh38
NC_000002.11:g.179395350T>G , CM000664.1:g.179395350T>G	GRCh37
NC_000002.10:g.179103596T>G	NCBI36
NG_011618.3:g.305180A>C , LRG_391:g.305180A>C
NG_051363.1:g.12797T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98288A>C (TTN)	ENSP00000343764.6:p.His32763Pro
ENST00000342175.11:c.79373A>C (TTN)	ENSP00000340554.6:p.His26458Pro
ENST00000359218.10:c.79172A>C (TTN)	ENSP00000352154.5:p.His26391Pro
ENST00000342175.10:c.79373A>C (TTN)	ENSP00000340554.6:p.His26458Pro
ENST00000342992.10:c.98288A>C (TTN)	ENSP00000343764.6:p.His32763Pro
ENST00000359218.9:c.79172A>C (TTN)	ENSP00000352154.5:p.His26391Pro
ENST00000460472.6:c.78797A>C (TTN)	ENSP00000434586.1:p.His26266Pro
ENST00000589042.5:c.105992A>C (TTN) MANE Select	ENSP00000467141.1:p.His35331Pro
ENST00000591111.5:c.101069A>C (TTN)	ENSP00000465570.1:p.His33690Pro
ENST00000615779.4:c.101069A>C (TTN)	ENSP00000483597.1:p.His33690Pro
NM_001256850.1:c.101069A>C (TTN)	NP_001243779.1:p.His33690Pro
NM_001267550.2:c.105992A>C (TTN) MANE Select	NP_001254479.2:p.His35331Pro
NM_003319.4:c.78797A>C (TTN)	NP_003310.4:p.His26266Pro
NM_133378.4:c.98288A>C (TTN)	NP_596869.4:p.His32763Pro
NM_133432.3:c.79172A>C (TTN)	NP_597676.3:p.His26391Pro
NM_133437.4:c.79373A>C (TTN)	NP_597681.4:p.His26458Pro
NR_038271.1:n.446+6987T>G (TTN-AS1)
NR_038272.1:n.220-5109T>G (TTN-AS1)
XM_011511729.1:c.105089A>C (TTN)	XP_011510031.1:p.His35030Pro
XM_011511730.1:c.78983A>C (TTN)	XP_011510032.1:p.His26328Pro
XM_011511731.1:c.78842A>C (TTN)	XP_011510033.1:p.His26281Pro
XM_017004819.1:c.104885A>C (TTN)	XP_016860308.1:p.His34962Pro
XM_017004820.1:c.100283A>C (TTN)	XP_016860309.1:p.His33428Pro
XM_017004821.1:c.100280A>C (TTN)	XP_016860310.1:p.His33427Pro
XM_017004822.1:c.97322A>C (TTN)	XP_016860311.1:p.His32441Pro
XM_017004823.1:c.78938A>C (TTN)	XP_016860312.1:p.His26313Pro
XM_024453094.1:c.100433A>C (TTN)	XP_024308862.1:p.His33478Pro
XM_024453095.1:c.100430A>C (TTN)	XP_024308863.1:p.His33477Pro
XM_024453096.1:c.99863A>C (TTN)	XP_024308864.1:p.His33288Pro
XM_024453097.1:c.97205A>C (TTN)	XP_024308865.1:p.His32402Pro
XM_024453098.1:c.97124A>C (TTN)	XP_024308866.1:p.His32375Pro
XM_024453099.1:c.78887A>C (TTN)	XP_024308867.1:p.His26296Pro
XM_024453100.1:c.68741A>C (TTN)	XP_024308868.1:p.His22914Pro