Canonical Allele Identifier: CA353374

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 223316
• ClinVar RCV Id: RCV000209713 ; RCV002517419
• dbSNP Id: rs869312074
• MyVariant Identifiers: chr2:g.179441649C>T (hg19) ; chr2:g.178576922C>T (hg38)
• PubMed: PMID:25589632

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178576922C>T , CM000664.2:g.178576922C>T	GRCh38
NC_000002.11:g.179441649C>T , CM000664.1:g.179441649C>T	GRCh37
NC_000002.10:g.179149895C>T	NCBI36
NG_011618.3:g.258881G>A , LRG_391:g.258881G>A
NG_051363.1:g.59096C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.61708+1G>A (TTN)	ENSP00000343764.6:n.61708+1G>A
ENST00000342175.11:c.42793+1G>A (TTN)	ENSP00000340554.6:n.42793+1G>A
ENST00000359218.10:c.42592+1G>A (TTN)	ENSP00000352154.5:n.42592+1G>A
ENST00000342175.10:c.42793+1G>A (TTN)	ENSP00000340554.6:n.42793+1G>A
ENST00000342992.10:c.61708+1G>A (TTN)	ENSP00000343764.6:n.61708+1G>A
ENST00000359218.9:c.42592+1G>A (TTN)	ENSP00000352154.5:n.42592+1G>A
ENST00000460472.6:c.42217+1G>A (TTN)	ENSP00000434586.1:n.42217+1G>A
ENST00000589042.5:c.69412+1G>A (TTN) MANE Select	ENSP00000467141.1:n.69412+1G>A
ENST00000591111.5:c.64489+1G>A (TTN)	ENSP00000465570.1:n.64489+1G>A
ENST00000615779.4:c.64489+1G>A (TTN)	ENSP00000483597.1:n.64489+1G>A
NM_001256850.1:c.64489+1G>A (TTN)	NP_001243779.1:n.64489+1G>A
NM_001267550.2:c.69412+1G>A (TTN) MANE Select	NP_001254479.2:n.69412+1G>A
NM_003319.4:c.42217+1G>A (TTN)	NP_003310.4:n.42217+1G>A
NM_133378.4:c.61708+1G>A (TTN)	NP_596869.4:n.61708+1G>A
NM_133432.3:c.42592+1G>A (TTN)	NP_597676.3:n.42592+1G>A
NM_133437.4:c.42793+1G>A (TTN)	NP_597681.4:n.42793+1G>A
NR_038271.1:n.596+5473C>T (TTN-AS1)
NR_038272.1:n.2044-5650C>T (TTN-AS1)
XM_011511729.1:c.68509+1G>A (TTN)	XP_011510031.1:n.68509+1G>A
XM_011511730.1:c.42403+1G>A (TTN)	XP_011510032.1:n.42403+1G>A
XM_011511731.1:c.42262+1G>A (TTN)	XP_011510033.1:n.42262+1G>A
XM_017004819.1:c.68305+1G>A (TTN)	XP_016860308.1:n.68305+1G>A
XM_017004820.1:c.63703+1G>A (TTN)	XP_016860309.1:n.63703+1G>A
XM_017004821.1:c.63700+1G>A (TTN)	XP_016860310.1:n.63700+1G>A
XM_017004822.1:c.60742+1G>A (TTN)	XP_016860311.1:n.60742+1G>A
XM_017004823.1:c.42358+1G>A (TTN)	XP_016860312.1:n.42358+1G>A
XM_024453094.1:c.63853+1G>A (TTN)	XP_024308862.1:n.63853+1G>A
XM_024453095.1:c.63850+1G>A (TTN)	XP_024308863.1:n.63850+1G>A
XM_024453096.1:c.63283+1G>A (TTN)	XP_024308864.1:n.63283+1G>A
XM_024453097.1:c.60625+1G>A (TTN)	XP_024308865.1:n.60625+1G>A
XM_024453098.1:c.60544+1G>A (TTN)	XP_024308866.1:n.60544+1G>A
XM_024453099.1:c.42307+1G>A (TTN)	XP_024308867.1:n.42307+1G>A
XM_024453100.1:c.32161+1G>A (TTN)	XP_024308868.1:n.32161+1G>A