Canonical Allele Identifier: CA184132

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 179290
• ClinVar RCV Id: RCV000156079 ; RCV001435686
• dbSNP Id: rs727504767
• gnomAD v4: 2-178608483-A-T
• MyVariant Identifiers: chr2:g.179473210A>T (hg19) ; chr2:g.178608483A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178608483A>T , CM000664.2:g.178608483A>T	GRCh38
NC_000002.11:g.179473210A>T , CM000664.1:g.179473210A>T	GRCh37
NC_000002.10:g.179181455A>T	NCBI36
NG_011618.3:g.227320T>A , LRG_391:g.227320T>A
NG_051363.1:g.90657A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.44702-6T>A (TTN)	ENSP00000343764.6:n.44702-6T>A
ENST00000342175.11:c.25787-6T>A (TTN)	ENSP00000340554.6:n.25787-6T>A
ENST00000359218.10:c.25586-6T>A (TTN)	ENSP00000352154.5:n.25586-6T>A
ENST00000342175.10:c.25787-6T>A (TTN)	ENSP00000340554.6:n.25787-6T>A
ENST00000342992.10:c.44702-6T>A (TTN)	ENSP00000343764.6:n.44702-6T>A
ENST00000359218.9:c.25586-6T>A (TTN)	ENSP00000352154.5:n.25586-6T>A
ENST00000460472.6:c.25211-6T>A (TTN)	ENSP00000434586.1:n.25211-6T>A
ENST00000589042.5:c.52406-6T>A (TTN) MANE Select	ENSP00000467141.1:n.52406-6T>A
ENST00000591111.5:c.47483-6T>A (TTN)	ENSP00000465570.1:n.47483-6T>A
ENST00000615779.4:c.47483-6T>A (TTN)	ENSP00000483597.1:n.47483-6T>A
NM_001256850.1:c.47483-6T>A (TTN)	NP_001243779.1:n.47483-6T>A
NM_001267550.2:c.52406-6T>A (TTN) MANE Select	NP_001254479.2:n.52406-6T>A
NM_003319.4:c.25211-6T>A (TTN)	NP_003310.4:n.25211-6T>A
NM_133378.4:c.44702-6T>A (TTN)	NP_596869.4:n.44702-6T>A
NM_133432.3:c.25586-6T>A (TTN)	NP_597676.3:n.25586-6T>A
NM_133437.4:c.25787-6T>A (TTN)	NP_597681.4:n.25787-6T>A
NR_038271.1:n.782+217A>T (TTN-AS1)
XM_011511729.1:c.51503-6T>A (TTN)	XP_011510031.1:n.51503-6T>A
XM_011511730.1:c.25397-6T>A (TTN)	XP_011510032.1:n.25397-6T>A
XM_011511731.1:c.25256-6T>A (TTN)	XP_011510033.1:n.25256-6T>A
XM_017004819.1:c.51299-6T>A (TTN)	XP_016860308.1:n.51299-6T>A
XM_017004820.1:c.46697-6T>A (TTN)	XP_016860309.1:n.46697-6T>A
XM_017004821.1:c.46694-6T>A (TTN)	XP_016860310.1:n.46694-6T>A
XM_017004822.1:c.43736-6T>A (TTN)	XP_016860311.1:n.43736-6T>A
XM_017004823.1:c.25352-6T>A (TTN)	XP_016860312.1:n.25352-6T>A
XM_024453094.1:c.46847-6T>A (TTN)	XP_024308862.1:n.46847-6T>A
XM_024453095.1:c.46844-6T>A (TTN)	XP_024308863.1:n.46844-6T>A
XM_024453096.1:c.46277-6T>A (TTN)	XP_024308864.1:n.46277-6T>A
XM_024453097.1:c.43619-6T>A (TTN)	XP_024308865.1:n.43619-6T>A
XM_024453098.1:c.43538-6T>A (TTN)	XP_024308866.1:n.43538-6T>A
XM_024453099.1:c.25301-6T>A (TTN)	XP_024308867.1:n.25301-6T>A
XM_024453100.1:c.15155-6T>A (TTN)	XP_024308868.1:n.15155-6T>A