Canonical Allele Identifier: CA538090273

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1464134014
• gnomAD v2: 2-179394790-G-GA
• gnomAD v4: 2-178530063-G-GA
• MyVariant Identifiers: chr2:g.179394790_179394791insA (hg19) ; chr2:g.178530063_178530064insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530065dup , CM000664.2:g.178530065dup	GRCh38
NC_000002.11:g.179394792dup , CM000664.1:g.179394792dup	GRCh37
NC_000002.10:g.179103038dup	NCBI36
NG_011618.3:g.305739dup , LRG_391:g.305739dup
NG_051363.1:g.12239dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98723dup (TTN)	ENSP00000343764.6:p.Glu32910ArgfsTer4
ENST00000342175.11:c.79808dup (TTN)	ENSP00000340554.6:p.Glu26605ArgfsTer4
ENST00000359218.10:c.79607dup (TTN)	ENSP00000352154.5:p.Glu26538ArgfsTer4
ENST00000342175.10:c.79808dup (TTN)	ENSP00000340554.6:p.Glu26605ArgfsTer4
ENST00000342992.10:c.98723dup (TTN)	ENSP00000343764.6:p.Glu32910ArgfsTer4
ENST00000359218.9:c.79607dup (TTN)	ENSP00000352154.5:p.Glu26538ArgfsTer4
ENST00000460472.6:c.79232dup (TTN)	ENSP00000434586.1:p.Glu26413ArgfsTer4
ENST00000589042.5:c.106427dup (TTN) MANE Select	ENSP00000467141.1:p.Glu35478ArgfsTer4
ENST00000591111.5:c.101504dup (TTN)	ENSP00000465570.1:p.Glu33837ArgfsTer4
ENST00000615779.4:c.101504dup (TTN)	ENSP00000483597.1:p.Glu33837ArgfsTer4
NM_001256850.1:c.101504dup (TTN)	NP_001243779.1:p.Glu33837ArgfsTer4
NM_001267550.2:c.106427dup (TTN) MANE Select	NP_001254479.2:p.Glu35478ArgfsTer4
NM_003319.4:c.79232dup (TTN)	NP_003310.4:p.Glu26413ArgfsTer4
NM_133378.4:c.98723dup (TTN)	NP_596869.4:p.Glu32910ArgfsTer4
NM_133432.3:c.79607dup (TTN)	NP_597676.3:p.Glu26538ArgfsTer4
NM_133437.4:c.79808dup (TTN)	NP_597681.4:p.Glu26605ArgfsTer4
NR_038271.1:n.446+6429dup (TTN-AS1)
NR_038272.1:n.220-5667dup (TTN-AS1)
XM_011511729.1:c.105524dup (TTN)	XP_011510031.1:p.Glu35177ArgfsTer4
XM_011511730.1:c.79418dup (TTN)	XP_011510032.1:p.Glu26475ArgfsTer4
XM_011511731.1:c.79277dup (TTN)	XP_011510033.1:p.Glu26428ArgfsTer4
XM_017004819.1:c.105320dup (TTN)	XP_016860308.1:p.Glu35109ArgfsTer4
XM_017004820.1:c.100718dup (TTN)	XP_016860309.1:p.Glu33575ArgfsTer4
XM_017004821.1:c.100715dup (TTN)	XP_016860310.1:p.Glu33574ArgfsTer4
XM_017004822.1:c.97757dup (TTN)	XP_016860311.1:p.Glu32588ArgfsTer4
XM_017004823.1:c.79373dup (TTN)	XP_016860312.1:p.Glu26460ArgfsTer4
XM_024453094.1:c.100868dup (TTN)	XP_024308862.1:p.Glu33625ArgfsTer4
XM_024453095.1:c.100865dup (TTN)	XP_024308863.1:p.Glu33624ArgfsTer4
XM_024453096.1:c.100298dup (TTN)	XP_024308864.1:p.Glu33435ArgfsTer4
XM_024453097.1:c.97640dup (TTN)	XP_024308865.1:p.Glu32549ArgfsTer4
XM_024453098.1:c.97559dup (TTN)	XP_024308866.1:p.Glu32522ArgfsTer4
XM_024453099.1:c.79322dup (TTN)	XP_024308867.1:p.Glu26443ArgfsTer4
XM_024453100.1:c.69176dup (TTN)	XP_024308868.1:p.Glu23061ArgfsTer4