Canonical Allele Identifier: CA349601357

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179432123C>A (hg19) ; chr2:g.178567396C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178567396C>A , CM000664.2:g.178567396C>A	GRCh38
NC_000002.11:g.179432123C>A , CM000664.1:g.179432123C>A	GRCh37
NC_000002.10:g.179140369C>A	NCBI36
NG_011618.3:g.268407G>T , LRG_391:g.268407G>T
NG_051363.1:g.49570C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.71032G>T (TTN)	ENSP00000343764.6:p.Asp23678Tyr
ENST00000342175.11:c.52117G>T (TTN)	ENSP00000340554.6:p.Asp17373Tyr
ENST00000359218.10:c.51916G>T (TTN)	ENSP00000352154.5:p.Asp17306Tyr
ENST00000342175.10:c.52117G>T (TTN)	ENSP00000340554.6:p.Asp17373Tyr
ENST00000342992.10:c.71032G>T (TTN)	ENSP00000343764.6:p.Asp23678Tyr
ENST00000359218.9:c.51916G>T (TTN)	ENSP00000352154.5:p.Asp17306Tyr
ENST00000460472.6:c.51541G>T (TTN)	ENSP00000434586.1:p.Asp17181Tyr
ENST00000589042.5:c.78736G>T (TTN) MANE Select	ENSP00000467141.1:p.Asp26246Tyr
ENST00000591111.5:c.73813G>T (TTN)	ENSP00000465570.1:p.Asp24605Tyr
ENST00000615779.4:c.73813G>T (TTN)	ENSP00000483597.1:p.Asp24605Tyr
NM_001256850.1:c.73813G>T (TTN)	NP_001243779.1:p.Asp24605Tyr
NM_001267550.2:c.78736G>T (TTN) MANE Select	NP_001254479.2:p.Asp26246Tyr
NM_003319.4:c.51541G>T (TTN)	NP_003310.4:p.Asp17181Tyr
NM_133378.4:c.71032G>T (TTN)	NP_596869.4:p.Asp23678Tyr
NM_133432.3:c.51916G>T (TTN)	NP_597676.3:p.Asp17306Tyr
NM_133437.4:c.52117G>T (TTN)	NP_597681.4:p.Asp17373Tyr
NR_038271.1:n.447-3904C>A (TTN-AS1)
NR_038272.1:n.2044-15176C>A (TTN-AS1)
XM_011511729.1:c.77833G>T (TTN)	XP_011510031.1:p.Asp25945Tyr
XM_011511730.1:c.51727G>T (TTN)	XP_011510032.1:p.Asp17243Tyr
XM_011511731.1:c.51586G>T (TTN)	XP_011510033.1:p.Asp17196Tyr
XM_017004819.1:c.77629G>T (TTN)	XP_016860308.1:p.Asp25877Tyr
XM_017004820.1:c.73027G>T (TTN)	XP_016860309.1:p.Asp24343Tyr
XM_017004821.1:c.73024G>T (TTN)	XP_016860310.1:p.Asp24342Tyr
XM_017004822.1:c.70066G>T (TTN)	XP_016860311.1:p.Asp23356Tyr
XM_017004823.1:c.51682G>T (TTN)	XP_016860312.1:p.Asp17228Tyr
XM_024453094.1:c.73177G>T (TTN)	XP_024308862.1:p.Asp24393Tyr
XM_024453095.1:c.73174G>T (TTN)	XP_024308863.1:p.Asp24392Tyr
XM_024453096.1:c.72607G>T (TTN)	XP_024308864.1:p.Asp24203Tyr
XM_024453097.1:c.69949G>T (TTN)	XP_024308865.1:p.Asp23317Tyr
XM_024453098.1:c.69868G>T (TTN)	XP_024308866.1:p.Asp23290Tyr
XM_024453099.1:c.51631G>T (TTN)	XP_024308867.1:p.Asp17211Tyr
XM_024453100.1:c.41485G>T (TTN)	XP_024308868.1:p.Asp13829Tyr