Canonical Allele Identifier: CA310602

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 202890
• ClinVar RCV Id: RCV000184856
• dbSNP Id: rs113597171
• gnomAD v4: 2-178567207-A-T
• MyVariant Identifiers: chr2:g.179431934A>T (hg19) ; chr2:g.178567207A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178567207A>T , CM000664.2:g.178567207A>T	GRCh38
NC_000002.11:g.179431934A>T , CM000664.1:g.179431934A>T	GRCh37
NC_000002.10:g.179140180A>T	NCBI36
NG_011618.3:g.268596T>A , LRG_391:g.268596T>A
NG_051363.1:g.49381A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.71221T>A (TTN)	ENSP00000343764.6:p.Ser23741Thr
ENST00000342175.11:c.52306T>A (TTN)	ENSP00000340554.6:p.Ser17436Thr
ENST00000359218.10:c.52105T>A (TTN)	ENSP00000352154.5:p.Ser17369Thr
ENST00000342175.10:c.52306T>A (TTN)	ENSP00000340554.6:p.Ser17436Thr
ENST00000342992.10:c.71221T>A (TTN)	ENSP00000343764.6:p.Ser23741Thr
ENST00000359218.9:c.52105T>A (TTN)	ENSP00000352154.5:p.Ser17369Thr
ENST00000460472.6:c.51730T>A (TTN)	ENSP00000434586.1:p.Ser17244Thr
ENST00000589042.5:c.78925T>A (TTN) MANE Select	ENSP00000467141.1:p.Ser26309Thr
ENST00000591111.5:c.74002T>A (TTN)	ENSP00000465570.1:p.Ser24668Thr
ENST00000615779.4:c.74002T>A (TTN)	ENSP00000483597.1:p.Ser24668Thr
NM_001256850.1:c.74002T>A (TTN)	NP_001243779.1:p.Ser24668Thr
NM_001267550.2:c.78925T>A (TTN) MANE Select	NP_001254479.2:p.Ser26309Thr
NM_003319.4:c.51730T>A (TTN)	NP_003310.4:p.Ser17244Thr
NM_133378.4:c.71221T>A (TTN)	NP_596869.4:p.Ser23741Thr
NM_133432.3:c.52105T>A (TTN)	NP_597676.3:p.Ser17369Thr
NM_133437.4:c.52306T>A (TTN)	NP_597681.4:p.Ser17436Thr
NR_038271.1:n.447-4093A>T (TTN-AS1)
NR_038272.1:n.2044-15365A>T (TTN-AS1)
XM_011511729.1:c.78022T>A (TTN)	XP_011510031.1:p.Ser26008Thr
XM_011511730.1:c.51916T>A (TTN)	XP_011510032.1:p.Ser17306Thr
XM_011511731.1:c.51775T>A (TTN)	XP_011510033.1:p.Ser17259Thr
XM_017004819.1:c.77818T>A (TTN)	XP_016860308.1:p.Ser25940Thr
XM_017004820.1:c.73216T>A (TTN)	XP_016860309.1:p.Ser24406Thr
XM_017004821.1:c.73213T>A (TTN)	XP_016860310.1:p.Ser24405Thr
XM_017004822.1:c.70255T>A (TTN)	XP_016860311.1:p.Ser23419Thr
XM_017004823.1:c.51871T>A (TTN)	XP_016860312.1:p.Ser17291Thr
XM_024453094.1:c.73366T>A (TTN)	XP_024308862.1:p.Ser24456Thr
XM_024453095.1:c.73363T>A (TTN)	XP_024308863.1:p.Ser24455Thr
XM_024453096.1:c.72796T>A (TTN)	XP_024308864.1:p.Ser24266Thr
XM_024453097.1:c.70138T>A (TTN)	XP_024308865.1:p.Ser23380Thr
XM_024453098.1:c.70057T>A (TTN)	XP_024308866.1:p.Ser23353Thr
XM_024453099.1:c.51820T>A (TTN)	XP_024308867.1:p.Ser17274Thr
XM_024453100.1:c.41674T>A (TTN)	XP_024308868.1:p.Ser13892Thr