Canonical Allele Identifier: CA349672575

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179442819A>C (hg19) ; chr2:g.178578092A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178578092A>C , CM000664.2:g.178578092A>C	GRCh38
NC_000002.11:g.179442819A>C , CM000664.1:g.179442819A>C	GRCh37
NC_000002.10:g.179151065A>C	NCBI36
NG_011618.3:g.257711T>G , LRG_391:g.257711T>G
NG_051363.1:g.60266A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.60719T>G (TTN)	ENSP00000343764.6:p.Leu20240Ter
ENST00000342175.11:c.41804T>G (TTN)	ENSP00000340554.6:p.Leu13935Ter
ENST00000359218.10:c.41603T>G (TTN)	ENSP00000352154.5:p.Leu13868Ter
ENST00000342175.10:c.41804T>G (TTN)	ENSP00000340554.6:p.Leu13935Ter
ENST00000342992.10:c.60719T>G (TTN)	ENSP00000343764.6:p.Leu20240Ter
ENST00000359218.9:c.41603T>G (TTN)	ENSP00000352154.5:p.Leu13868Ter
ENST00000460472.6:c.41228T>G (TTN)	ENSP00000434586.1:p.Leu13743Ter
ENST00000589042.5:c.68423T>G (TTN) MANE Select	ENSP00000467141.1:p.Leu22808Ter
ENST00000591111.5:c.63500T>G (TTN)	ENSP00000465570.1:p.Leu21167Ter
ENST00000615779.4:c.63500T>G (TTN)	ENSP00000483597.1:p.Leu21167Ter
NM_001256850.1:c.63500T>G (TTN)	NP_001243779.1:p.Leu21167Ter
NM_001267550.2:c.68423T>G (TTN) MANE Select	NP_001254479.2:p.Leu22808Ter
NM_003319.4:c.41228T>G (TTN)	NP_003310.4:p.Leu13743Ter
NM_133378.4:c.60719T>G (TTN)	NP_596869.4:p.Leu20240Ter
NM_133432.3:c.41603T>G (TTN)	NP_597676.3:p.Leu13868Ter
NM_133437.4:c.41804T>G (TTN)	NP_597681.4:p.Leu13935Ter
NR_038271.1:n.596+6643A>C (TTN-AS1)
NR_038272.1:n.2044-4480A>C (TTN-AS1)
XM_011511729.1:c.67520T>G (TTN)	XP_011510031.1:p.Leu22507Ter
XM_011511730.1:c.41414T>G (TTN)	XP_011510032.1:p.Leu13805Ter
XM_011511731.1:c.41273T>G (TTN)	XP_011510033.1:p.Leu13758Ter
XM_017004819.1:c.67316T>G (TTN)	XP_016860308.1:p.Leu22439Ter
XM_017004820.1:c.62714T>G (TTN)	XP_016860309.1:p.Leu20905Ter
XM_017004821.1:c.62711T>G (TTN)	XP_016860310.1:p.Leu20904Ter
XM_017004822.1:c.59753T>G (TTN)	XP_016860311.1:p.Leu19918Ter
XM_017004823.1:c.41369T>G (TTN)	XP_016860312.1:p.Leu13790Ter
XM_024453094.1:c.62864T>G (TTN)	XP_024308862.1:p.Leu20955Ter
XM_024453095.1:c.62861T>G (TTN)	XP_024308863.1:p.Leu20954Ter
XM_024453096.1:c.62294T>G (TTN)	XP_024308864.1:p.Leu20765Ter
XM_024453097.1:c.59636T>G (TTN)	XP_024308865.1:p.Leu19879Ter
XM_024453098.1:c.59555T>G (TTN)	XP_024308866.1:p.Leu19852Ter
XM_024453099.1:c.41318T>G (TTN)	XP_024308867.1:p.Leu13773Ter
XM_024453100.1:c.31172T>G (TTN)	XP_024308868.1:p.Leu10391Ter