Canonical Allele Identifier: CA349405662

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 448767
• ClinVar RCV Id: RCV000517317 ; RCV000985108 ; RCV004527388
• dbSNP Id: rs1553482872
• MyVariant Identifiers: chr2:g.179394845T>C (hg19) ; chr2:g.178530118T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530118T>C , CM000664.2:g.178530118T>C	GRCh38
NC_000002.11:g.179394845T>C , CM000664.1:g.179394845T>C	GRCh37
NC_000002.10:g.179103091T>C	NCBI36
NG_011618.3:g.305685A>G , LRG_391:g.305685A>G
NG_051363.1:g.12292T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98671-2A>G (TTN)	ENSP00000343764.6:n.98671-2A>G
ENST00000342175.11:c.79756-2A>G (TTN)	ENSP00000340554.6:n.79756-2A>G
ENST00000359218.10:c.79555-2A>G (TTN)	ENSP00000352154.5:n.79555-2A>G
ENST00000342175.10:c.79756-2A>G (TTN)	ENSP00000340554.6:n.79756-2A>G
ENST00000342992.10:c.98671-2A>G (TTN)	ENSP00000343764.6:n.98671-2A>G
ENST00000359218.9:c.79555-2A>G (TTN)	ENSP00000352154.5:n.79555-2A>G
ENST00000460472.6:c.79180-2A>G (TTN)	ENSP00000434586.1:n.79180-2A>G
ENST00000589042.5:c.106375-2A>G (TTN) MANE Select	ENSP00000467141.1:n.106375-2A>G
ENST00000591111.5:c.101452-2A>G (TTN)	ENSP00000465570.1:n.101452-2A>G
ENST00000615779.4:c.101452-2A>G (TTN)	ENSP00000483597.1:n.101452-2A>G
NM_001256850.1:c.101452-2A>G (TTN)	NP_001243779.1:n.101452-2A>G
NM_001267550.2:c.106375-2A>G (TTN) MANE Select	NP_001254479.2:n.106375-2A>G
NM_003319.4:c.79180-2A>G (TTN)	NP_003310.4:n.79180-2A>G
NM_133378.4:c.98671-2A>G (TTN)	NP_596869.4:n.98671-2A>G
NM_133432.3:c.79555-2A>G (TTN)	NP_597676.3:n.79555-2A>G
NM_133437.4:c.79756-2A>G (TTN)	NP_597681.4:n.79756-2A>G
NR_038271.1:n.446+6482T>C (TTN-AS1)
NR_038272.1:n.220-5614T>C (TTN-AS1)
XM_011511729.1:c.105472-2A>G (TTN)	XP_011510031.1:n.105472-2A>G
XM_011511730.1:c.79366-2A>G (TTN)	XP_011510032.1:n.79366-2A>G
XM_011511731.1:c.79225-2A>G (TTN)	XP_011510033.1:n.79225-2A>G
XM_017004819.1:c.105268-2A>G (TTN)	XP_016860308.1:n.105268-2A>G
XM_017004820.1:c.100666-2A>G (TTN)	XP_016860309.1:n.100666-2A>G
XM_017004821.1:c.100663-2A>G (TTN)	XP_016860310.1:n.100663-2A>G
XM_017004822.1:c.97705-2A>G (TTN)	XP_016860311.1:n.97705-2A>G
XM_017004823.1:c.79321-2A>G (TTN)	XP_016860312.1:n.79321-2A>G
XM_024453094.1:c.100816-2A>G (TTN)	XP_024308862.1:n.100816-2A>G
XM_024453095.1:c.100813-2A>G (TTN)	XP_024308863.1:n.100813-2A>G
XM_024453096.1:c.100246-2A>G (TTN)	XP_024308864.1:n.100246-2A>G
XM_024453097.1:c.97588-2A>G (TTN)	XP_024308865.1:n.97588-2A>G
XM_024453098.1:c.97507-2A>G (TTN)	XP_024308866.1:n.97507-2A>G
XM_024453099.1:c.79270-2A>G (TTN)	XP_024308867.1:n.79270-2A>G
XM_024453100.1:c.69124-2A>G (TTN)	XP_024308868.1:n.69124-2A>G