Canonical Allele Identifier: CA1991784

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs369058733
• ExAC: 2:179449198 A / G
• gnomAD v2: 2-179449198-A-G
• gnomAD v3: 2-178584471-A-G
• gnomAD v4: 2-178584471-A-G
• MyVariant Identifiers: chr2:g.179449198A>G (hg19) ; chr2:g.178584471A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178584471A>G , CM000664.2:g.178584471A>G	GRCh38
NC_000002.11:g.179449198A>G , CM000664.1:g.179449198A>G	GRCh37
NC_000002.10:g.179157444A>G	NCBI36
NG_011618.3:g.251332T>C , LRG_391:g.251332T>C
NG_051363.1:g.66645A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.57376T>C (TTN)	ENSP00000343764.6:p.Tyr19126His
ENST00000342175.11:c.38461T>C (TTN)	ENSP00000340554.6:p.Tyr12821His
ENST00000359218.10:c.38260T>C (TTN)	ENSP00000352154.5:p.Tyr12754His
ENST00000342175.10:c.38461T>C (TTN)	ENSP00000340554.6:p.Tyr12821His
ENST00000342992.10:c.57376T>C (TTN)	ENSP00000343764.6:p.Tyr19126His
ENST00000359218.9:c.38260T>C (TTN)	ENSP00000352154.5:p.Tyr12754His
ENST00000460472.6:c.37885T>C (TTN)	ENSP00000434586.1:p.Tyr12629His
ENST00000589042.5:c.65080T>C (TTN) MANE Select	ENSP00000467141.1:p.Tyr21694His
ENST00000591111.5:c.60157T>C (TTN)	ENSP00000465570.1:p.Tyr20053His
ENST00000615779.4:c.60157T>C (TTN)	ENSP00000483597.1:p.Tyr20053His
NM_001256850.1:c.60157T>C (TTN)	NP_001243779.1:p.Tyr20053His
NM_001267550.2:c.65080T>C (TTN) MANE Select	NP_001254479.2:p.Tyr21694His
NM_003319.4:c.37885T>C (TTN)	NP_003310.4:p.Tyr12629His
NM_133378.4:c.57376T>C (TTN)	NP_596869.4:p.Tyr19126His
NM_133432.3:c.38260T>C (TTN)	NP_597676.3:p.Tyr12754His
NM_133437.4:c.38461T>C (TTN)	NP_597681.4:p.Tyr12821His
NR_038271.1:n.596+13022A>G (TTN-AS1)
NR_038272.1:n.2768-102A>G (TTN-AS1)
XM_011511729.1:c.64177T>C (TTN)	XP_011510031.1:p.Tyr21393His
XM_011511730.1:c.38071T>C (TTN)	XP_011510032.1:p.Tyr12691His
XM_011511731.1:c.37930T>C (TTN)	XP_011510033.1:p.Tyr12644His
XM_017004819.1:c.63973T>C (TTN)	XP_016860308.1:p.Tyr21325His
XM_017004820.1:c.59371T>C (TTN)	XP_016860309.1:p.Tyr19791His
XM_017004821.1:c.59368T>C (TTN)	XP_016860310.1:p.Tyr19790His
XM_017004822.1:c.56410T>C (TTN)	XP_016860311.1:p.Tyr18804His
XM_017004823.1:c.38026T>C (TTN)	XP_016860312.1:p.Tyr12676His
XM_024453094.1:c.59521T>C (TTN)	XP_024308862.1:p.Tyr19841His
XM_024453095.1:c.59518T>C (TTN)	XP_024308863.1:p.Tyr19840His
XM_024453096.1:c.58951T>C (TTN)	XP_024308864.1:p.Tyr19651His
XM_024453097.1:c.56293T>C (TTN)	XP_024308865.1:p.Tyr18765His
XM_024453098.1:c.56212T>C (TTN)	XP_024308866.1:p.Tyr18738His
XM_024453099.1:c.37975T>C (TTN)	XP_024308867.1:p.Tyr12659His
XM_024453100.1:c.27829T>C (TTN)	XP_024308868.1:p.Tyr9277His