Canonical Allele Identifier: CA1990090

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 263537
• ClinVar RCV Id: RCV001128847 ; RCV001128848 ; RCV001131506 ; RCV001131507 ; RCV001131508 ; RCV001705385
• dbSNP Id: rs370480927
• ExAC: 2:179435667 A / G
• gnomAD v2: 2-179435667-A-G
• gnomAD v3: 2-178570940-A-G
• gnomAD v4: 2-178570940-A-G
• MyVariant Identifiers: chr2:g.179435667A>G (hg19) ; chr2:g.178570940A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178570940A>G , CM000664.2:g.178570940A>G	GRCh38
NC_000002.11:g.179435667A>G , CM000664.1:g.179435667A>G	GRCh37
NC_000002.10:g.179143913A>G	NCBI36
NG_011618.3:g.264863T>C , LRG_391:g.264863T>C
NG_051363.1:g.53114A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.67488T>C (TTN)	ENSP00000343764.6:p.Thr22496=
ENST00000342175.11:c.48573T>C (TTN)	ENSP00000340554.6:p.Thr16191=
ENST00000359218.10:c.48372T>C (TTN)	ENSP00000352154.5:p.Thr16124=
ENST00000342175.10:c.48573T>C (TTN)	ENSP00000340554.6:p.Thr16191=
ENST00000342992.10:c.67488T>C (TTN)	ENSP00000343764.6:p.Thr22496=
ENST00000359218.9:c.48372T>C (TTN)	ENSP00000352154.5:p.Thr16124=
ENST00000460472.6:c.47997T>C (TTN)	ENSP00000434586.1:p.Thr15999=
ENST00000589042.5:c.75192T>C (TTN) MANE Select	ENSP00000467141.1:p.Thr25064=
ENST00000591111.5:c.70269T>C (TTN)	ENSP00000465570.1:p.Thr23423=
ENST00000615779.4:c.70269T>C (TTN)	ENSP00000483597.1:p.Thr23423=
NM_001256850.1:c.70269T>C (TTN)	NP_001243779.1:p.Thr23423=
NM_001267550.2:c.75192T>C (TTN) MANE Select	NP_001254479.2:p.Thr25064=
NM_003319.4:c.47997T>C (TTN)	NP_003310.4:p.Thr15999=
NM_133378.4:c.67488T>C (TTN)	NP_596869.4:p.Thr22496=
NM_133432.3:c.48372T>C (TTN)	NP_597676.3:p.Thr16124=
NM_133437.4:c.48573T>C (TTN)	NP_597681.4:p.Thr16191=
NR_038271.1:n.447-360A>G (TTN-AS1)
NR_038272.1:n.2044-11632A>G (TTN-AS1)
XM_011511729.1:c.74289T>C (TTN)	XP_011510031.1:p.Thr24763=
XM_011511730.1:c.48183T>C (TTN)	XP_011510032.1:p.Thr16061=
XM_011511731.1:c.48042T>C (TTN)	XP_011510033.1:p.Thr16014=
XM_017004819.1:c.74085T>C (TTN)	XP_016860308.1:p.Thr24695=
XM_017004820.1:c.69483T>C (TTN)	XP_016860309.1:p.Thr23161=
XM_017004821.1:c.69480T>C (TTN)	XP_016860310.1:p.Thr23160=
XM_017004822.1:c.66522T>C (TTN)	XP_016860311.1:p.Thr22174=
XM_017004823.1:c.48138T>C (TTN)	XP_016860312.1:p.Thr16046=
XM_024453094.1:c.69633T>C (TTN)	XP_024308862.1:p.Thr23211=
XM_024453095.1:c.69630T>C (TTN)	XP_024308863.1:p.Thr23210=
XM_024453096.1:c.69063T>C (TTN)	XP_024308864.1:p.Thr23021=
XM_024453097.1:c.66405T>C (TTN)	XP_024308865.1:p.Thr22135=
XM_024453098.1:c.66324T>C (TTN)	XP_024308866.1:p.Thr22108=
XM_024453099.1:c.48087T>C (TTN)	XP_024308867.1:p.Thr16029=
XM_024453100.1:c.37941T>C (TTN)	XP_024308868.1:p.Thr12647=