Canonical Allele Identifier: CA349427927

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179402361T>A (hg19) ; chr2:g.178537634T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178537634T>A , CM000664.2:g.178537634T>A	GRCh38
NC_000002.11:g.179402361T>A , CM000664.1:g.179402361T>A	GRCh37
NC_000002.10:g.179110607T>A	NCBI36
NG_011618.3:g.298169A>T , LRG_391:g.298169A>T
NG_051363.1:g.19808T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.91869A>T (TTN)	ENSP00000343764.6:p.Gln30623His
ENST00000342175.11:c.72954A>T (TTN)	ENSP00000340554.6:p.Gln24318His
ENST00000359218.10:c.72753A>T (TTN)	ENSP00000352154.5:p.Gln24251His
ENST00000342175.10:c.72954A>T (TTN)	ENSP00000340554.6:p.Gln24318His
ENST00000342992.10:c.91869A>T (TTN)	ENSP00000343764.6:p.Gln30623His
ENST00000359218.9:c.72753A>T (TTN)	ENSP00000352154.5:p.Gln24251His
ENST00000460472.6:c.72378A>T (TTN)	ENSP00000434586.1:p.Gln24126His
ENST00000589042.5:c.99573A>T (TTN) MANE Select	ENSP00000467141.1:p.Gln33191His
ENST00000591111.5:c.94650A>T (TTN)	ENSP00000465570.1:p.Gln31550His
ENST00000615779.4:c.94650A>T (TTN)	ENSP00000483597.1:p.Gln31550His
NM_001256850.1:c.94650A>T (TTN)	NP_001243779.1:p.Gln31550His
NM_001267550.2:c.99573A>T (TTN) MANE Select	NP_001254479.2:p.Gln33191His
NM_003319.4:c.72378A>T (TTN)	NP_003310.4:p.Gln24126His
NM_133378.4:c.91869A>T (TTN)	NP_596869.4:p.Gln30623His
NM_133432.3:c.72753A>T (TTN)	NP_597676.3:p.Gln24251His
NM_133437.4:c.72954A>T (TTN)	NP_597681.4:p.Gln24318His
NR_038271.1:n.446+13998T>A (TTN-AS1)
NR_038272.1:n.590T>A (TTN-AS1)
XM_011511729.1:c.98670A>T (TTN)	XP_011510031.1:p.Gln32890His
XM_011511730.1:c.72564A>T (TTN)	XP_011510032.1:p.Gln24188His
XM_011511731.1:c.72423A>T (TTN)	XP_011510033.1:p.Gln24141His
XM_017004819.1:c.98466A>T (TTN)	XP_016860308.1:p.Gln32822His
XM_017004820.1:c.93864A>T (TTN)	XP_016860309.1:p.Gln31288His
XM_017004821.1:c.93861A>T (TTN)	XP_016860310.1:p.Gln31287His
XM_017004822.1:c.90903A>T (TTN)	XP_016860311.1:p.Gln30301His
XM_017004823.1:c.72519A>T (TTN)	XP_016860312.1:p.Gln24173His
XM_024453094.1:c.94014A>T (TTN)	XP_024308862.1:p.Gln31338His
XM_024453095.1:c.94011A>T (TTN)	XP_024308863.1:p.Gln31337His
XM_024453096.1:c.93444A>T (TTN)	XP_024308864.1:p.Gln31148His
XM_024453097.1:c.90786A>T (TTN)	XP_024308865.1:p.Gln30262His
XM_024453098.1:c.90705A>T (TTN)	XP_024308866.1:p.Gln30235His
XM_024453099.1:c.72468A>T (TTN)	XP_024308867.1:p.Gln24156His
XM_024453100.1:c.62322A>T (TTN)	XP_024308868.1:p.Gln20774His