Canonical Allele Identifier: CA349406169

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179395030T>G (hg19) ; chr2:g.178530303T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530303T>G , CM000664.2:g.178530303T>G	GRCh38
NC_000002.11:g.179395030T>G , CM000664.1:g.179395030T>G	GRCh37
NC_000002.10:g.179103276T>G	NCBI36
NG_011618.3:g.305500A>C , LRG_391:g.305500A>C
NG_051363.1:g.12477T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98608A>C (TTN)	ENSP00000343764.6:p.Lys32870Gln
ENST00000342175.11:c.79693A>C (TTN)	ENSP00000340554.6:p.Lys26565Gln
ENST00000359218.10:c.79492A>C (TTN)	ENSP00000352154.5:p.Lys26498Gln
ENST00000342175.10:c.79693A>C (TTN)	ENSP00000340554.6:p.Lys26565Gln
ENST00000342992.10:c.98608A>C (TTN)	ENSP00000343764.6:p.Lys32870Gln
ENST00000359218.9:c.79492A>C (TTN)	ENSP00000352154.5:p.Lys26498Gln
ENST00000460472.6:c.79117A>C (TTN)	ENSP00000434586.1:p.Lys26373Gln
ENST00000589042.5:c.106312A>C (TTN) MANE Select	ENSP00000467141.1:p.Lys35438Gln
ENST00000591111.5:c.101389A>C (TTN)	ENSP00000465570.1:p.Lys33797Gln
ENST00000615779.4:c.101389A>C (TTN)	ENSP00000483597.1:p.Lys33797Gln
NM_001256850.1:c.101389A>C (TTN)	NP_001243779.1:p.Lys33797Gln
NM_001267550.2:c.106312A>C (TTN) MANE Select	NP_001254479.2:p.Lys35438Gln
NM_003319.4:c.79117A>C (TTN)	NP_003310.4:p.Lys26373Gln
NM_133378.4:c.98608A>C (TTN)	NP_596869.4:p.Lys32870Gln
NM_133432.3:c.79492A>C (TTN)	NP_597676.3:p.Lys26498Gln
NM_133437.4:c.79693A>C (TTN)	NP_597681.4:p.Lys26565Gln
NR_038271.1:n.446+6667T>G (TTN-AS1)
NR_038272.1:n.220-5429T>G (TTN-AS1)
XM_011511729.1:c.105409A>C (TTN)	XP_011510031.1:p.Lys35137Gln
XM_011511730.1:c.79303A>C (TTN)	XP_011510032.1:p.Lys26435Gln
XM_011511731.1:c.79162A>C (TTN)	XP_011510033.1:p.Lys26388Gln
XM_017004819.1:c.105205A>C (TTN)	XP_016860308.1:p.Lys35069Gln
XM_017004820.1:c.100603A>C (TTN)	XP_016860309.1:p.Lys33535Gln
XM_017004821.1:c.100600A>C (TTN)	XP_016860310.1:p.Lys33534Gln
XM_017004822.1:c.97642A>C (TTN)	XP_016860311.1:p.Lys32548Gln
XM_017004823.1:c.79258A>C (TTN)	XP_016860312.1:p.Lys26420Gln
XM_024453094.1:c.100753A>C (TTN)	XP_024308862.1:p.Lys33585Gln
XM_024453095.1:c.100750A>C (TTN)	XP_024308863.1:p.Lys33584Gln
XM_024453096.1:c.100183A>C (TTN)	XP_024308864.1:p.Lys33395Gln
XM_024453097.1:c.97525A>C (TTN)	XP_024308865.1:p.Lys32509Gln
XM_024453098.1:c.97444A>C (TTN)	XP_024308866.1:p.Lys32482Gln
XM_024453099.1:c.79207A>C (TTN)	XP_024308867.1:p.Lys26403Gln
XM_024453100.1:c.69061A>C (TTN)	XP_024308868.1:p.Lys23021Gln