Canonical Allele Identifier: CA430254904

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179435277T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178570550T>G , CM000664.2:g.178570550T>G	GRCh38
NC_000002.11:g.179435277T>G , CM000664.1:g.179435277T>G	GRCh37
NC_000002.10:g.179143523T>G	NCBI36
NG_011618.3:g.265253A>C , LRG_391:g.265253A>C
NG_051363.1:g.52724T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.67878A>C (TTN)	ENSP00000343764.6:p.Ser22626=
ENST00000342175.11:c.48963A>C (TTN)	ENSP00000340554.6:p.Ser16321=
ENST00000359218.10:c.48762A>C (TTN)	ENSP00000352154.5:p.Ser16254=
ENST00000342175.10:c.48963A>C (TTN)	ENSP00000340554.6:p.Ser16321=
ENST00000342992.10:c.67878A>C (TTN)	ENSP00000343764.6:p.Ser22626=
ENST00000359218.9:c.48762A>C (TTN)	ENSP00000352154.5:p.Ser16254=
ENST00000460472.6:c.48387A>C (TTN)	ENSP00000434586.1:p.Ser16129=
ENST00000589042.5:c.75582A>C (TTN) MANE Select	ENSP00000467141.1:p.Ser25194=
ENST00000591111.5:c.70659A>C (TTN)	ENSP00000465570.1:p.Ser23553=
ENST00000615779.4:c.70659A>C (TTN)	ENSP00000483597.1:p.Ser23553=
NM_001256850.1:c.70659A>C (TTN)	NP_001243779.1:p.Ser23553=
NM_001267550.2:c.75582A>C (TTN) MANE Select	NP_001254479.2:p.Ser25194=
NM_003319.4:c.48387A>C (TTN)	NP_003310.4:p.Ser16129=
NM_133378.4:c.67878A>C (TTN)	NP_596869.4:p.Ser22626=
NM_133432.3:c.48762A>C (TTN)	NP_597676.3:p.Ser16254=
NM_133437.4:c.48963A>C (TTN)	NP_597681.4:p.Ser16321=
NR_038271.1:n.447-750T>G (TTN-AS1)
NR_038272.1:n.2044-12022T>G (TTN-AS1)
XM_011511729.1:c.74679A>C (TTN)	XP_011510031.1:p.Ser24893=
XM_011511730.1:c.48573A>C (TTN)	XP_011510032.1:p.Ser16191=
XM_011511731.1:c.48432A>C (TTN)	XP_011510033.1:p.Ser16144=
XM_017004819.1:c.74475A>C (TTN)	XP_016860308.1:p.Ser24825=
XM_017004820.1:c.69873A>C (TTN)	XP_016860309.1:p.Ser23291=
XM_017004821.1:c.69870A>C (TTN)	XP_016860310.1:p.Ser23290=
XM_017004822.1:c.66912A>C (TTN)	XP_016860311.1:p.Ser22304=
XM_017004823.1:c.48528A>C (TTN)	XP_016860312.1:p.Ser16176=
XM_024453094.1:c.70023A>C (TTN)	XP_024308862.1:p.Ser23341=
XM_024453095.1:c.70020A>C (TTN)	XP_024308863.1:p.Ser23340=
XM_024453096.1:c.69453A>C (TTN)	XP_024308864.1:p.Ser23151=
XM_024453097.1:c.66795A>C (TTN)	XP_024308865.1:p.Ser22265=
XM_024453098.1:c.66714A>C (TTN)	XP_024308866.1:p.Ser22238=
XM_024453099.1:c.48477A>C (TTN)	XP_024308867.1:p.Ser16159=
XM_024453100.1:c.38331A>C (TTN)	XP_024308868.1:p.Ser12777=