Canonical Allele Identifier: CA349407059

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178530527-C-T
• COSMIC: COSM5860696 ; COSM5860697 ; COSM5860698 ; COSM5860699
• MyVariant Identifiers: chr2:g.179395254C>T (hg19) ; chr2:g.178530527C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530527C>T , CM000664.2:g.178530527C>T	GRCh38
NC_000002.11:g.179395254C>T , CM000664.1:g.179395254C>T	GRCh37
NC_000002.10:g.179103500C>T	NCBI36
NG_011618.3:g.305276G>A , LRG_391:g.305276G>A
NG_051363.1:g.12701C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98384G>A (TTN)	ENSP00000343764.6:p.Gly32795Asp
ENST00000342175.11:c.79469G>A (TTN)	ENSP00000340554.6:p.Gly26490Asp
ENST00000359218.10:c.79268G>A (TTN)	ENSP00000352154.5:p.Gly26423Asp
ENST00000342175.10:c.79469G>A (TTN)	ENSP00000340554.6:p.Gly26490Asp
ENST00000342992.10:c.98384G>A (TTN)	ENSP00000343764.6:p.Gly32795Asp
ENST00000359218.9:c.79268G>A (TTN)	ENSP00000352154.5:p.Gly26423Asp
ENST00000460472.6:c.78893G>A (TTN)	ENSP00000434586.1:p.Gly26298Asp
ENST00000589042.5:c.106088G>A (TTN) MANE Select	ENSP00000467141.1:p.Gly35363Asp
ENST00000591111.5:c.101165G>A (TTN)	ENSP00000465570.1:p.Gly33722Asp
ENST00000615779.4:c.101165G>A (TTN)	ENSP00000483597.1:p.Gly33722Asp
NM_001256850.1:c.101165G>A (TTN)	NP_001243779.1:p.Gly33722Asp
NM_001267550.2:c.106088G>A (TTN) MANE Select	NP_001254479.2:p.Gly35363Asp
NM_003319.4:c.78893G>A (TTN)	NP_003310.4:p.Gly26298Asp
NM_133378.4:c.98384G>A (TTN)	NP_596869.4:p.Gly32795Asp
NM_133432.3:c.79268G>A (TTN)	NP_597676.3:p.Gly26423Asp
NM_133437.4:c.79469G>A (TTN)	NP_597681.4:p.Gly26490Asp
NR_038271.1:n.446+6891C>T (TTN-AS1)
NR_038272.1:n.220-5205C>T (TTN-AS1)
XM_011511729.1:c.105185G>A (TTN)	XP_011510031.1:p.Gly35062Asp
XM_011511730.1:c.79079G>A (TTN)	XP_011510032.1:p.Gly26360Asp
XM_011511731.1:c.78938G>A (TTN)	XP_011510033.1:p.Gly26313Asp
XM_017004819.1:c.104981G>A (TTN)	XP_016860308.1:p.Gly34994Asp
XM_017004820.1:c.100379G>A (TTN)	XP_016860309.1:p.Gly33460Asp
XM_017004821.1:c.100376G>A (TTN)	XP_016860310.1:p.Gly33459Asp
XM_017004822.1:c.97418G>A (TTN)	XP_016860311.1:p.Gly32473Asp
XM_017004823.1:c.79034G>A (TTN)	XP_016860312.1:p.Gly26345Asp
XM_024453094.1:c.100529G>A (TTN)	XP_024308862.1:p.Gly33510Asp
XM_024453095.1:c.100526G>A (TTN)	XP_024308863.1:p.Gly33509Asp
XM_024453096.1:c.99959G>A (TTN)	XP_024308864.1:p.Gly33320Asp
XM_024453097.1:c.97301G>A (TTN)	XP_024308865.1:p.Gly32434Asp
XM_024453098.1:c.97220G>A (TTN)	XP_024308866.1:p.Gly32407Asp
XM_024453099.1:c.78983G>A (TTN)	XP_024308867.1:p.Gly26328Asp
XM_024453100.1:c.68837G>A (TTN)	XP_024308868.1:p.Gly22946Asp