Canonical Allele Identifier: CA349612892

Gene: TTN TTN-AS1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.69317G>A (TTN)	ENSP00000343764.6:p.Arg23106Lys
ENST00000342175.11:c.50402G>A (TTN)	ENSP00000340554.6:p.Arg16801Lys
ENST00000359218.10:c.50201G>A (TTN)	ENSP00000352154.5:p.Arg16734Lys
ENST00000342175.10:c.50402G>A (TTN)	ENSP00000340554.6:p.Arg16801Lys
ENST00000342992.10:c.69317G>A (TTN)	ENSP00000343764.6:p.Arg23106Lys
ENST00000359218.9:c.50201G>A (TTN)	ENSP00000352154.5:p.Arg16734Lys
ENST00000460472.6:c.49826G>A (TTN)	ENSP00000434586.1:p.Arg16609Lys
ENST00000589042.5:c.77021G>A (TTN) MANE Select	ENSP00000467141.1:p.Arg25674Lys
ENST00000591111.5:c.72098G>A (TTN)	ENSP00000465570.1:p.Arg24033Lys
ENST00000615779.4:c.72098G>A (TTN)	ENSP00000483597.1:p.Arg24033Lys
NM_001256850.1:c.72098G>A (TTN)	NP_001243779.1:p.Arg24033Lys
NM_001267550.2:c.77021G>A (TTN) MANE Select	NP_001254479.2:p.Arg25674Lys
NM_003319.4:c.49826G>A (TTN)	NP_003310.4:p.Arg16609Lys
NM_133378.4:c.69317G>A (TTN)	NP_596869.4:p.Arg23106Lys
NM_133432.3:c.50201G>A (TTN)	NP_597676.3:p.Arg16734Lys
NM_133437.4:c.50402G>A (TTN)	NP_597681.4:p.Arg16801Lys
NR_038271.1:n.447-2189C>T (TTN-AS1)
NR_038272.1:n.2044-13461C>T (TTN-AS1)
XM_011511729.1:c.76118G>A (TTN)	XP_011510031.1:p.Arg25373Lys
XM_011511730.1:c.50012G>A (TTN)	XP_011510032.1:p.Arg16671Lys
XM_011511731.1:c.49871G>A (TTN)	XP_011510033.1:p.Arg16624Lys
XM_017004819.1:c.75914G>A (TTN)	XP_016860308.1:p.Arg25305Lys
XM_017004820.1:c.71312G>A (TTN)	XP_016860309.1:p.Arg23771Lys
XM_017004821.1:c.71309G>A (TTN)	XP_016860310.1:p.Arg23770Lys
XM_017004822.1:c.68351G>A (TTN)	XP_016860311.1:p.Arg22784Lys
XM_017004823.1:c.49967G>A (TTN)	XP_016860312.1:p.Arg16656Lys
XM_024453094.1:c.71462G>A (TTN)	XP_024308862.1:p.Arg23821Lys
XM_024453095.1:c.71459G>A (TTN)	XP_024308863.1:p.Arg23820Lys
XM_024453096.1:c.70892G>A (TTN)	XP_024308864.1:p.Arg23631Lys
XM_024453097.1:c.68234G>A (TTN)	XP_024308865.1:p.Arg22745Lys
XM_024453098.1:c.68153G>A (TTN)	XP_024308866.1:p.Arg22718Lys
XM_024453099.1:c.49916G>A (TTN)	XP_024308867.1:p.Arg16639Lys
XM_024453100.1:c.39770G>A (TTN)	XP_024308868.1:p.Arg13257Lys