Canonical Allele Identifier: CA60983918

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1750510
• ClinVar RCV Id: RCV002355814
• dbSNP Id: rs994118977
• gnomAD v3: 2-178559730-A-G
• gnomAD v4: 2-178559730-A-G
• MyVariant Identifiers: chr2:g.179424457A>G (hg19) ; chr2:g.178559730A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178559730A>G , CM000664.2:g.178559730A>G	GRCh38
NC_000002.11:g.179424457A>G , CM000664.1:g.179424457A>G	GRCh37
NC_000002.10:g.179132703A>G	NCBI36
NG_011618.3:g.276073T>C , LRG_391:g.276073T>C
NG_051363.1:g.41904A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.78698T>C (TTN)	ENSP00000343764.6:p.Val26233Ala
ENST00000342175.11:c.59783T>C (TTN)	ENSP00000340554.6:p.Val19928Ala
ENST00000359218.10:c.59582T>C (TTN)	ENSP00000352154.5:p.Val19861Ala
ENST00000342175.10:c.59783T>C (TTN)	ENSP00000340554.6:p.Val19928Ala
ENST00000342992.10:c.78698T>C (TTN)	ENSP00000343764.6:p.Val26233Ala
ENST00000359218.9:c.59582T>C (TTN)	ENSP00000352154.5:p.Val19861Ala
ENST00000460472.6:c.59207T>C (TTN)	ENSP00000434586.1:p.Val19736Ala
ENST00000589042.5:c.86402T>C (TTN) MANE Select	ENSP00000467141.1:p.Val28801Ala
ENST00000591111.5:c.81479T>C (TTN)	ENSP00000465570.1:p.Val27160Ala
ENST00000615779.4:c.81479T>C (TTN)	ENSP00000483597.1:p.Val27160Ala
NM_001256850.1:c.81479T>C (TTN)	NP_001243779.1:p.Val27160Ala
NM_001267550.2:c.86402T>C (TTN) MANE Select	NP_001254479.2:p.Val28801Ala
NM_003319.4:c.59207T>C (TTN)	NP_003310.4:p.Val19736Ala
NM_133378.4:c.78698T>C (TTN)	NP_596869.4:p.Val26233Ala
NM_133432.3:c.59582T>C (TTN)	NP_597676.3:p.Val19861Ala
NM_133437.4:c.59783T>C (TTN)	NP_597681.4:p.Val19928Ala
NR_038271.1:n.447-11570A>G (TTN-AS1)
NR_038272.1:n.2043+17369A>G (TTN-AS1)
XM_011511729.1:c.85499T>C (TTN)	XP_011510031.1:p.Val28500Ala
XM_011511730.1:c.59393T>C (TTN)	XP_011510032.1:p.Val19798Ala
XM_011511731.1:c.59252T>C (TTN)	XP_011510033.1:p.Val19751Ala
XM_017004819.1:c.85295T>C (TTN)	XP_016860308.1:p.Val28432Ala
XM_017004820.1:c.80693T>C (TTN)	XP_016860309.1:p.Val26898Ala
XM_017004821.1:c.80690T>C (TTN)	XP_016860310.1:p.Val26897Ala
XM_017004822.1:c.77732T>C (TTN)	XP_016860311.1:p.Val25911Ala
XM_017004823.1:c.59348T>C (TTN)	XP_016860312.1:p.Val19783Ala
XM_024453094.1:c.80843T>C (TTN)	XP_024308862.1:p.Val26948Ala
XM_024453095.1:c.80840T>C (TTN)	XP_024308863.1:p.Val26947Ala
XM_024453096.1:c.80273T>C (TTN)	XP_024308864.1:p.Val26758Ala
XM_024453097.1:c.77615T>C (TTN)	XP_024308865.1:p.Val25872Ala
XM_024453098.1:c.77534T>C (TTN)	XP_024308866.1:p.Val25845Ala
XM_024453099.1:c.59297T>C (TTN)	XP_024308867.1:p.Val19766Ala
XM_024453100.1:c.49151T>C (TTN)	XP_024308868.1:p.Val16384Ala