Canonical Allele Identifier: CA349474274

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 535055
• ClinVar RCV Id: RCV000642818 ; RCV002360581
• dbSNP Id: rs1553524697
• MyVariant Identifiers: chr2:g.179411847T>A (hg19) ; chr2:g.178547120T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178547120T>A , CM000664.2:g.178547120T>A	GRCh38
NC_000002.11:g.179411847T>A , CM000664.1:g.179411847T>A	GRCh37
NC_000002.10:g.179120093T>A	NCBI36
NG_011618.3:g.288683A>T , LRG_391:g.288683A>T
NG_051363.1:g.29294T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.86701A>T (TTN)	ENSP00000343764.6:p.Lys28901Ter
ENST00000342175.11:c.67786A>T (TTN)	ENSP00000340554.6:p.Lys22596Ter
ENST00000359218.10:c.67585A>T (TTN)	ENSP00000352154.5:p.Lys22529Ter
ENST00000342175.10:c.67786A>T (TTN)	ENSP00000340554.6:p.Lys22596Ter
ENST00000342992.10:c.86701A>T (TTN)	ENSP00000343764.6:p.Lys28901Ter
ENST00000359218.9:c.67585A>T (TTN)	ENSP00000352154.5:p.Lys22529Ter
ENST00000460472.6:c.67210A>T (TTN)	ENSP00000434586.1:p.Lys22404Ter
ENST00000589042.5:c.94405A>T (TTN) MANE Select	ENSP00000467141.1:p.Lys31469Ter
ENST00000591111.5:c.89482A>T (TTN)	ENSP00000465570.1:p.Lys29828Ter
ENST00000615779.4:c.89482A>T (TTN)	ENSP00000483597.1:p.Lys29828Ter
NM_001256850.1:c.89482A>T (TTN)	NP_001243779.1:p.Lys29828Ter
NM_001267550.2:c.94405A>T (TTN) MANE Select	NP_001254479.2:p.Lys31469Ter
NM_003319.4:c.67210A>T (TTN)	NP_003310.4:p.Lys22404Ter
NM_133378.4:c.86701A>T (TTN)	NP_596869.4:p.Lys28901Ter
NM_133432.3:c.67585A>T (TTN)	NP_597676.3:p.Lys22529Ter
NM_133437.4:c.67786A>T (TTN)	NP_597681.4:p.Lys22596Ter
NR_038271.1:n.446+23484T>A (TTN-AS1)
NR_038272.1:n.2043+4759T>A (TTN-AS1)
XM_011511729.1:c.93502A>T (TTN)	XP_011510031.1:p.Lys31168Ter
XM_011511730.1:c.67396A>T (TTN)	XP_011510032.1:p.Lys22466Ter
XM_011511731.1:c.67255A>T (TTN)	XP_011510033.1:p.Lys22419Ter
XM_017004819.1:c.93298A>T (TTN)	XP_016860308.1:p.Lys31100Ter
XM_017004820.1:c.88696A>T (TTN)	XP_016860309.1:p.Lys29566Ter
XM_017004821.1:c.88693A>T (TTN)	XP_016860310.1:p.Lys29565Ter
XM_017004822.1:c.85735A>T (TTN)	XP_016860311.1:p.Lys28579Ter
XM_017004823.1:c.67351A>T (TTN)	XP_016860312.1:p.Lys22451Ter
XM_024453094.1:c.88846A>T (TTN)	XP_024308862.1:p.Lys29616Ter
XM_024453095.1:c.88843A>T (TTN)	XP_024308863.1:p.Lys29615Ter
XM_024453096.1:c.88276A>T (TTN)	XP_024308864.1:p.Lys29426Ter
XM_024453097.1:c.85618A>T (TTN)	XP_024308865.1:p.Lys28540Ter
XM_024453098.1:c.85537A>T (TTN)	XP_024308866.1:p.Lys28513Ter
XM_024453099.1:c.67300A>T (TTN)	XP_024308867.1:p.Lys22434Ter
XM_024453100.1:c.57154A>T (TTN)	XP_024308868.1:p.Lys19052Ter