Canonical Allele Identifier: CA349445984

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179408017T>G (hg19) ; chr2:g.178543290T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543290T>G , CM000664.2:g.178543290T>G	GRCh38
NC_000002.11:g.179408017T>G , CM000664.1:g.179408017T>G	GRCh37
NC_000002.10:g.179116263T>G	NCBI36
NG_011618.3:g.292513A>C , LRG_391:g.292513A>C
NG_051363.1:g.25464T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88979A>C (TTN)	ENSP00000343764.6:p.Tyr29660Ser
ENST00000342175.11:c.70064A>C (TTN)	ENSP00000340554.6:p.Tyr23355Ser
ENST00000359218.10:c.69863A>C (TTN)	ENSP00000352154.5:p.Tyr23288Ser
ENST00000342175.10:c.70064A>C (TTN)	ENSP00000340554.6:p.Tyr23355Ser
ENST00000342992.10:c.88979A>C (TTN)	ENSP00000343764.6:p.Tyr29660Ser
ENST00000359218.9:c.69863A>C (TTN)	ENSP00000352154.5:p.Tyr23288Ser
ENST00000460472.6:c.69488A>C (TTN)	ENSP00000434586.1:p.Tyr23163Ser
ENST00000589042.5:c.96683A>C (TTN) MANE Select	ENSP00000467141.1:p.Tyr32228Ser
ENST00000591111.5:c.91760A>C (TTN)	ENSP00000465570.1:p.Tyr30587Ser
ENST00000615779.4:c.91760A>C (TTN)	ENSP00000483597.1:p.Tyr30587Ser
NM_001256850.1:c.91760A>C (TTN)	NP_001243779.1:p.Tyr30587Ser
NM_001267550.2:c.96683A>C (TTN) MANE Select	NP_001254479.2:p.Tyr32228Ser
NM_003319.4:c.69488A>C (TTN)	NP_003310.4:p.Tyr23163Ser
NM_133378.4:c.88979A>C (TTN)	NP_596869.4:p.Tyr29660Ser
NM_133432.3:c.69863A>C (TTN)	NP_597676.3:p.Tyr23288Ser
NM_133437.4:c.70064A>C (TTN)	NP_597681.4:p.Tyr23355Ser
NR_038271.1:n.446+19654T>G (TTN-AS1)
NR_038272.1:n.2043+929T>G (TTN-AS1)
XM_011511729.1:c.95780A>C (TTN)	XP_011510031.1:p.Tyr31927Ser
XM_011511730.1:c.69674A>C (TTN)	XP_011510032.1:p.Tyr23225Ser
XM_011511731.1:c.69533A>C (TTN)	XP_011510033.1:p.Tyr23178Ser
XM_017004819.1:c.95576A>C (TTN)	XP_016860308.1:p.Tyr31859Ser
XM_017004820.1:c.90974A>C (TTN)	XP_016860309.1:p.Tyr30325Ser
XM_017004821.1:c.90971A>C (TTN)	XP_016860310.1:p.Tyr30324Ser
XM_017004822.1:c.88013A>C (TTN)	XP_016860311.1:p.Tyr29338Ser
XM_017004823.1:c.69629A>C (TTN)	XP_016860312.1:p.Tyr23210Ser
XM_024453094.1:c.91124A>C (TTN)	XP_024308862.1:p.Tyr30375Ser
XM_024453095.1:c.91121A>C (TTN)	XP_024308863.1:p.Tyr30374Ser
XM_024453096.1:c.90554A>C (TTN)	XP_024308864.1:p.Tyr30185Ser
XM_024453097.1:c.87896A>C (TTN)	XP_024308865.1:p.Tyr29299Ser
XM_024453098.1:c.87815A>C (TTN)	XP_024308866.1:p.Tyr29272Ser
XM_024453099.1:c.69578A>C (TTN)	XP_024308867.1:p.Tyr23193Ser
XM_024453100.1:c.59432A>C (TTN)	XP_024308868.1:p.Tyr19811Ser