Canonical Allele Identifier: CA309327

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 202410
• ClinVar RCV Id: RCV000184266 ; RCV003765146
• dbSNP Id: rs267599036
• MyVariant Identifiers: chr2:g.179432162C>A (hg19) ; chr2:g.178567435C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178567435C>A , CM000664.2:g.178567435C>A	GRCh38
NC_000002.11:g.179432162C>A , CM000664.1:g.179432162C>A	GRCh37
NC_000002.10:g.179140408C>A	NCBI36
NG_011618.3:g.268368G>T , LRG_391:g.268368G>T
NG_051363.1:g.49609C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.70993G>T (TTN)	ENSP00000343764.6:p.Glu23665Ter
ENST00000342175.11:c.52078G>T (TTN)	ENSP00000340554.6:p.Glu17360Ter
ENST00000359218.10:c.51877G>T (TTN)	ENSP00000352154.5:p.Glu17293Ter
ENST00000342175.10:c.52078G>T (TTN)	ENSP00000340554.6:p.Glu17360Ter
ENST00000342992.10:c.70993G>T (TTN)	ENSP00000343764.6:p.Glu23665Ter
ENST00000359218.9:c.51877G>T (TTN)	ENSP00000352154.5:p.Glu17293Ter
ENST00000460472.6:c.51502G>T (TTN)	ENSP00000434586.1:p.Glu17168Ter
ENST00000589042.5:c.78697G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu26233Ter
ENST00000591111.5:c.73774G>T (TTN)	ENSP00000465570.1:p.Glu24592Ter
ENST00000615779.4:c.73774G>T (TTN)	ENSP00000483597.1:p.Glu24592Ter
NM_001256850.1:c.73774G>T (TTN)	NP_001243779.1:p.Glu24592Ter
NM_001267550.2:c.78697G>T (TTN) MANE Select	NP_001254479.2:p.Glu26233Ter
NM_003319.4:c.51502G>T (TTN)	NP_003310.4:p.Glu17168Ter
NM_133378.4:c.70993G>T (TTN)	NP_596869.4:p.Glu23665Ter
NM_133432.3:c.51877G>T (TTN)	NP_597676.3:p.Glu17293Ter
NM_133437.4:c.52078G>T (TTN)	NP_597681.4:p.Glu17360Ter
NR_038271.1:n.447-3865C>A (TTN-AS1)
NR_038272.1:n.2044-15137C>A (TTN-AS1)
XM_011511729.1:c.77794G>T (TTN)	XP_011510031.1:p.Glu25932Ter
XM_011511730.1:c.51688G>T (TTN)	XP_011510032.1:p.Glu17230Ter
XM_011511731.1:c.51547G>T (TTN)	XP_011510033.1:p.Glu17183Ter
XM_017004819.1:c.77590G>T (TTN)	XP_016860308.1:p.Glu25864Ter
XM_017004820.1:c.72988G>T (TTN)	XP_016860309.1:p.Glu24330Ter
XM_017004821.1:c.72985G>T (TTN)	XP_016860310.1:p.Glu24329Ter
XM_017004822.1:c.70027G>T (TTN)	XP_016860311.1:p.Glu23343Ter
XM_017004823.1:c.51643G>T (TTN)	XP_016860312.1:p.Glu17215Ter
XM_024453094.1:c.73138G>T (TTN)	XP_024308862.1:p.Glu24380Ter
XM_024453095.1:c.73135G>T (TTN)	XP_024308863.1:p.Glu24379Ter
XM_024453096.1:c.72568G>T (TTN)	XP_024308864.1:p.Glu24190Ter
XM_024453097.1:c.69910G>T (TTN)	XP_024308865.1:p.Glu23304Ter
XM_024453098.1:c.69829G>T (TTN)	XP_024308866.1:p.Glu23277Ter
XM_024453099.1:c.51592G>T (TTN)	XP_024308867.1:p.Glu17198Ter
XM_024453100.1:c.41446G>T (TTN)	XP_024308868.1:p.Glu13816Ter