Canonical Allele Identifier: CA349659824

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 466633
• ClinVar RCV Id: RCV000542475
• dbSNP Id: rs1553612321
• MyVariant Identifiers: chr2:g.179439857T>A (hg19) ; chr2:g.178575130T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178575130T>A , CM000664.2:g.178575130T>A	GRCh38
NC_000002.11:g.179439857T>A , CM000664.1:g.179439857T>A	GRCh37
NC_000002.10:g.179148103T>A	NCBI36
NG_011618.3:g.260673A>T , LRG_391:g.260673A>T
NG_051363.1:g.57304T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.63298A>T (TTN)	ENSP00000343764.6:p.Lys21100Ter
ENST00000342175.11:c.44383A>T (TTN)	ENSP00000340554.6:p.Lys14795Ter
ENST00000359218.10:c.44182A>T (TTN)	ENSP00000352154.5:p.Lys14728Ter
ENST00000342175.10:c.44383A>T (TTN)	ENSP00000340554.6:p.Lys14795Ter
ENST00000342992.10:c.63298A>T (TTN)	ENSP00000343764.6:p.Lys21100Ter
ENST00000359218.9:c.44182A>T (TTN)	ENSP00000352154.5:p.Lys14728Ter
ENST00000460472.6:c.43807A>T (TTN)	ENSP00000434586.1:p.Lys14603Ter
ENST00000589042.5:c.71002A>T (TTN) MANE Select	ENSP00000467141.1:p.Lys23668Ter
ENST00000591111.5:c.66079A>T (TTN)	ENSP00000465570.1:p.Lys22027Ter
ENST00000615779.4:c.66079A>T (TTN)	ENSP00000483597.1:p.Lys22027Ter
NM_001256850.1:c.66079A>T (TTN)	NP_001243779.1:p.Lys22027Ter
NM_001267550.2:c.71002A>T (TTN) MANE Select	NP_001254479.2:p.Lys23668Ter
NM_003319.4:c.43807A>T (TTN)	NP_003310.4:p.Lys14603Ter
NM_133378.4:c.63298A>T (TTN)	NP_596869.4:p.Lys21100Ter
NM_133432.3:c.44182A>T (TTN)	NP_597676.3:p.Lys14728Ter
NM_133437.4:c.44383A>T (TTN)	NP_597681.4:p.Lys14795Ter
NR_038271.1:n.596+3681T>A (TTN-AS1)
NR_038272.1:n.2044-7442T>A (TTN-AS1)
XM_011511729.1:c.70099A>T (TTN)	XP_011510031.1:p.Lys23367Ter
XM_011511730.1:c.43993A>T (TTN)	XP_011510032.1:p.Lys14665Ter
XM_011511731.1:c.43852A>T (TTN)	XP_011510033.1:p.Lys14618Ter
XM_017004819.1:c.69895A>T (TTN)	XP_016860308.1:p.Lys23299Ter
XM_017004820.1:c.65293A>T (TTN)	XP_016860309.1:p.Lys21765Ter
XM_017004821.1:c.65290A>T (TTN)	XP_016860310.1:p.Lys21764Ter
XM_017004822.1:c.62332A>T (TTN)	XP_016860311.1:p.Lys20778Ter
XM_017004823.1:c.43948A>T (TTN)	XP_016860312.1:p.Lys14650Ter
XM_024453094.1:c.65443A>T (TTN)	XP_024308862.1:p.Lys21815Ter
XM_024453095.1:c.65440A>T (TTN)	XP_024308863.1:p.Lys21814Ter
XM_024453096.1:c.64873A>T (TTN)	XP_024308864.1:p.Lys21625Ter
XM_024453097.1:c.62215A>T (TTN)	XP_024308865.1:p.Lys20739Ter
XM_024453098.1:c.62134A>T (TTN)	XP_024308866.1:p.Lys20712Ter
XM_024453099.1:c.43897A>T (TTN)	XP_024308867.1:p.Lys14633Ter
XM_024453100.1:c.33751A>T (TTN)	XP_024308868.1:p.Lys11251Ter