Canonical Allele Identifier: CA1985112

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 586862
• ClinVar RCV Id: RCV000713958 ; RCV001038347 ; RCV002422623 ; RCV002485796
• dbSNP Id: rs373369136
• ExAC: 2:179394830 C / G
• gnomAD v2: 2-179394830-C-G
• gnomAD v3: 2-178530103-C-G
• gnomAD v4: 2-178530103-C-G
• MyVariant Identifiers: chr2:g.179394830C>G (hg19) ; chr2:g.178530103C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530103C>G , CM000664.2:g.178530103C>G	GRCh38
NC_000002.11:g.179394830C>G , CM000664.1:g.179394830C>G	GRCh37
NC_000002.10:g.179103076C>G	NCBI36
NG_011618.3:g.305700G>C , LRG_391:g.305700G>C
NG_051363.1:g.12277C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98684G>C (TTN)	ENSP00000343764.6:p.Gly32895Ala
ENST00000342175.11:c.79769G>C (TTN)	ENSP00000340554.6:p.Gly26590Ala
ENST00000359218.10:c.79568G>C (TTN)	ENSP00000352154.5:p.Gly26523Ala
ENST00000342175.10:c.79769G>C (TTN)	ENSP00000340554.6:p.Gly26590Ala
ENST00000342992.10:c.98684G>C (TTN)	ENSP00000343764.6:p.Gly32895Ala
ENST00000359218.9:c.79568G>C (TTN)	ENSP00000352154.5:p.Gly26523Ala
ENST00000460472.6:c.79193G>C (TTN)	ENSP00000434586.1:p.Gly26398Ala
ENST00000589042.5:c.106388G>C (TTN) MANE Select	ENSP00000467141.1:p.Gly35463Ala
ENST00000591111.5:c.101465G>C (TTN)	ENSP00000465570.1:p.Gly33822Ala
ENST00000615779.4:c.101465G>C (TTN)	ENSP00000483597.1:p.Gly33822Ala
NM_001256850.1:c.101465G>C (TTN)	NP_001243779.1:p.Gly33822Ala
NM_001267550.2:c.106388G>C (TTN) MANE Select	NP_001254479.2:p.Gly35463Ala
NM_003319.4:c.79193G>C (TTN)	NP_003310.4:p.Gly26398Ala
NM_133378.4:c.98684G>C (TTN)	NP_596869.4:p.Gly32895Ala
NM_133432.3:c.79568G>C (TTN)	NP_597676.3:p.Gly26523Ala
NM_133437.4:c.79769G>C (TTN)	NP_597681.4:p.Gly26590Ala
NR_038271.1:n.446+6467C>G (TTN-AS1)
NR_038272.1:n.220-5629C>G (TTN-AS1)
XM_011511729.1:c.105485G>C (TTN)	XP_011510031.1:p.Gly35162Ala
XM_011511730.1:c.79379G>C (TTN)	XP_011510032.1:p.Gly26460Ala
XM_011511731.1:c.79238G>C (TTN)	XP_011510033.1:p.Gly26413Ala
XM_017004819.1:c.105281G>C (TTN)	XP_016860308.1:p.Gly35094Ala
XM_017004820.1:c.100679G>C (TTN)	XP_016860309.1:p.Gly33560Ala
XM_017004821.1:c.100676G>C (TTN)	XP_016860310.1:p.Gly33559Ala
XM_017004822.1:c.97718G>C (TTN)	XP_016860311.1:p.Gly32573Ala
XM_017004823.1:c.79334G>C (TTN)	XP_016860312.1:p.Gly26445Ala
XM_024453094.1:c.100829G>C (TTN)	XP_024308862.1:p.Gly33610Ala
XM_024453095.1:c.100826G>C (TTN)	XP_024308863.1:p.Gly33609Ala
XM_024453096.1:c.100259G>C (TTN)	XP_024308864.1:p.Gly33420Ala
XM_024453097.1:c.97601G>C (TTN)	XP_024308865.1:p.Gly32534Ala
XM_024453098.1:c.97520G>C (TTN)	XP_024308866.1:p.Gly32507Ala
XM_024453099.1:c.79283G>C (TTN)	XP_024308867.1:p.Gly26428Ala
XM_024453100.1:c.69137G>C (TTN)	XP_024308868.1:p.Gly23046Ala