Canonical Allele Identifier: CA309082

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 202322
• ClinVar RCV Id: RCV000184161 ; RCV000643673
• dbSNP Id: rs794729245
• gnomAD v4: 2-178577698-C-T
• MyVariant Identifiers: chr2:g.179442425C>T (hg19) ; chr2:g.178577698C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178577698C>T , CM000664.2:g.178577698C>T	GRCh38
NC_000002.11:g.179442425C>T , CM000664.1:g.179442425C>T	GRCh37
NC_000002.10:g.179150671C>T	NCBI36
NG_011618.3:g.258105G>A , LRG_391:g.258105G>A
NG_051363.1:g.59872C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.61024G>A (TTN)	ENSP00000343764.6:p.Gly20342Arg
ENST00000342175.11:c.42109G>A (TTN)	ENSP00000340554.6:p.Gly14037Arg
ENST00000359218.10:c.41908G>A (TTN)	ENSP00000352154.5:p.Gly13970Arg
ENST00000342175.10:c.42109G>A (TTN)	ENSP00000340554.6:p.Gly14037Arg
ENST00000342992.10:c.61024G>A (TTN)	ENSP00000343764.6:p.Gly20342Arg
ENST00000359218.9:c.41908G>A (TTN)	ENSP00000352154.5:p.Gly13970Arg
ENST00000460472.6:c.41533G>A (TTN)	ENSP00000434586.1:p.Gly13845Arg
ENST00000589042.5:c.68728G>A (TTN) MANE Select	ENSP00000467141.1:p.Gly22910Arg
ENST00000591111.5:c.63805G>A (TTN)	ENSP00000465570.1:p.Gly21269Arg
ENST00000615779.4:c.63805G>A (TTN)	ENSP00000483597.1:p.Gly21269Arg
NM_001256850.1:c.63805G>A (TTN)	NP_001243779.1:p.Gly21269Arg
NM_001267550.2:c.68728G>A (TTN) MANE Select	NP_001254479.2:p.Gly22910Arg
NM_003319.4:c.41533G>A (TTN)	NP_003310.4:p.Gly13845Arg
NM_133378.4:c.61024G>A (TTN)	NP_596869.4:p.Gly20342Arg
NM_133432.3:c.41908G>A (TTN)	NP_597676.3:p.Gly13970Arg
NM_133437.4:c.42109G>A (TTN)	NP_597681.4:p.Gly14037Arg
NR_038271.1:n.596+6249C>T (TTN-AS1)
NR_038272.1:n.2044-4874C>T (TTN-AS1)
XM_011511729.1:c.67825G>A (TTN)	XP_011510031.1:p.Gly22609Arg
XM_011511730.1:c.41719G>A (TTN)	XP_011510032.1:p.Gly13907Arg
XM_011511731.1:c.41578G>A (TTN)	XP_011510033.1:p.Gly13860Arg
XM_017004819.1:c.67621G>A (TTN)	XP_016860308.1:p.Gly22541Arg
XM_017004820.1:c.63019G>A (TTN)	XP_016860309.1:p.Gly21007Arg
XM_017004821.1:c.63016G>A (TTN)	XP_016860310.1:p.Gly21006Arg
XM_017004822.1:c.60058G>A (TTN)	XP_016860311.1:p.Gly20020Arg
XM_017004823.1:c.41674G>A (TTN)	XP_016860312.1:p.Gly13892Arg
XM_024453094.1:c.63169G>A (TTN)	XP_024308862.1:p.Gly21057Arg
XM_024453095.1:c.63166G>A (TTN)	XP_024308863.1:p.Gly21056Arg
XM_024453096.1:c.62599G>A (TTN)	XP_024308864.1:p.Gly20867Arg
XM_024453097.1:c.59941G>A (TTN)	XP_024308865.1:p.Gly19981Arg
XM_024453098.1:c.59860G>A (TTN)	XP_024308866.1:p.Gly19954Arg
XM_024453099.1:c.41623G>A (TTN)	XP_024308867.1:p.Gly13875Arg
XM_024453100.1:c.31477G>A (TTN)	XP_024308868.1:p.Gly10493Arg