Canonical Allele Identifier: CA349612896

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179433838C>A (hg19) ; chr2:g.178569111C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178569111C>A , CM000664.2:g.178569111C>A	GRCh38
NC_000002.11:g.179433838C>A , CM000664.1:g.179433838C>A	GRCh37
NC_000002.10:g.179142084C>A	NCBI36
NG_011618.3:g.266692G>T , LRG_391:g.266692G>T
NG_051363.1:g.51285C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.69317G>T (TTN)	ENSP00000343764.6:p.Arg23106Ile
ENST00000342175.11:c.50402G>T (TTN)	ENSP00000340554.6:p.Arg16801Ile
ENST00000359218.10:c.50201G>T (TTN)	ENSP00000352154.5:p.Arg16734Ile
ENST00000342175.10:c.50402G>T (TTN)	ENSP00000340554.6:p.Arg16801Ile
ENST00000342992.10:c.69317G>T (TTN)	ENSP00000343764.6:p.Arg23106Ile
ENST00000359218.9:c.50201G>T (TTN)	ENSP00000352154.5:p.Arg16734Ile
ENST00000460472.6:c.49826G>T (TTN)	ENSP00000434586.1:p.Arg16609Ile
ENST00000589042.5:c.77021G>T (TTN) MANE Select	ENSP00000467141.1:p.Arg25674Ile
ENST00000591111.5:c.72098G>T (TTN)	ENSP00000465570.1:p.Arg24033Ile
ENST00000615779.4:c.72098G>T (TTN)	ENSP00000483597.1:p.Arg24033Ile
NM_001256850.1:c.72098G>T (TTN)	NP_001243779.1:p.Arg24033Ile
NM_001267550.2:c.77021G>T (TTN) MANE Select	NP_001254479.2:p.Arg25674Ile
NM_003319.4:c.49826G>T (TTN)	NP_003310.4:p.Arg16609Ile
NM_133378.4:c.69317G>T (TTN)	NP_596869.4:p.Arg23106Ile
NM_133432.3:c.50201G>T (TTN)	NP_597676.3:p.Arg16734Ile
NM_133437.4:c.50402G>T (TTN)	NP_597681.4:p.Arg16801Ile
NR_038271.1:n.447-2189C>A (TTN-AS1)
NR_038272.1:n.2044-13461C>A (TTN-AS1)
XM_011511729.1:c.76118G>T (TTN)	XP_011510031.1:p.Arg25373Ile
XM_011511730.1:c.50012G>T (TTN)	XP_011510032.1:p.Arg16671Ile
XM_011511731.1:c.49871G>T (TTN)	XP_011510033.1:p.Arg16624Ile
XM_017004819.1:c.75914G>T (TTN)	XP_016860308.1:p.Arg25305Ile
XM_017004820.1:c.71312G>T (TTN)	XP_016860309.1:p.Arg23771Ile
XM_017004821.1:c.71309G>T (TTN)	XP_016860310.1:p.Arg23770Ile
XM_017004822.1:c.68351G>T (TTN)	XP_016860311.1:p.Arg22784Ile
XM_017004823.1:c.49967G>T (TTN)	XP_016860312.1:p.Arg16656Ile
XM_024453094.1:c.71462G>T (TTN)	XP_024308862.1:p.Arg23821Ile
XM_024453095.1:c.71459G>T (TTN)	XP_024308863.1:p.Arg23820Ile
XM_024453096.1:c.70892G>T (TTN)	XP_024308864.1:p.Arg23631Ile
XM_024453097.1:c.68234G>T (TTN)	XP_024308865.1:p.Arg22745Ile
XM_024453098.1:c.68153G>T (TTN)	XP_024308866.1:p.Arg22718Ile
XM_024453099.1:c.49916G>T (TTN)	XP_024308867.1:p.Arg16639Ile
XM_024453100.1:c.39770G>T (TTN)	XP_024308868.1:p.Arg13257Ile