Canonical Allele Identifier: CA349398506

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs2154129810
• MyVariant Identifiers: chr2:g.179391830T>C (hg19) ; chr2:g.178527103T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178527103T>C , CM000664.2:g.178527103T>C	GRCh38
NC_000002.11:g.179391830T>C , CM000664.1:g.179391830T>C	GRCh37
NC_000002.10:g.179100076T>C	NCBI36
NG_011618.3:g.308700A>G , LRG_391:g.308700A>G
NG_051363.1:g.9277T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.100181A>G (TTN)	ENSP00000343764.6:p.Gln33394Arg
ENST00000342175.11:c.81266A>G (TTN)	ENSP00000340554.6:p.Gln27089Arg
ENST00000359218.10:c.81065A>G (TTN)	ENSP00000352154.5:p.Gln27022Arg
ENST00000342175.10:c.81266A>G (TTN)	ENSP00000340554.6:p.Gln27089Arg
ENST00000342992.10:c.100181A>G (TTN)	ENSP00000343764.6:p.Gln33394Arg
ENST00000359218.9:c.81065A>G (TTN)	ENSP00000352154.5:p.Gln27022Arg
ENST00000460472.6:c.80690A>G (TTN)	ENSP00000434586.1:p.Gln26897Arg
ENST00000589042.5:c.107885A>G (TTN) MANE Select	ENSP00000467141.1:p.Gln35962Arg
ENST00000591111.5:c.102962A>G (TTN)	ENSP00000465570.1:p.Gln34321Arg
ENST00000615779.4:c.102962A>G (TTN)	ENSP00000483597.1:p.Gln34321Arg
NM_001256850.1:c.102962A>G (TTN)	NP_001243779.1:p.Gln34321Arg
NM_001267550.2:c.107885A>G (TTN) MANE Select	NP_001254479.2:p.Gln35962Arg
NM_003319.4:c.80690A>G (TTN)	NP_003310.4:p.Gln26897Arg
NM_133378.4:c.100181A>G (TTN)	NP_596869.4:p.Gln33394Arg
NM_133432.3:c.81065A>G (TTN)	NP_597676.3:p.Gln27022Arg
NM_133437.4:c.81266A>G (TTN)	NP_597681.4:p.Gln27089Arg
NR_038271.1:n.446+3467T>C (TTN-AS1)
NR_038272.1:n.219+3467T>C (TTN-AS1)
XM_011511729.1:c.106982A>G (TTN)	XP_011510031.1:p.Gln35661Arg
XM_011511730.1:c.80876A>G (TTN)	XP_011510032.1:p.Gln26959Arg
XM_011511731.1:c.80735A>G (TTN)	XP_011510033.1:p.Gln26912Arg
XM_017004819.1:c.106778A>G (TTN)	XP_016860308.1:p.Gln35593Arg
XM_017004820.1:c.102176A>G (TTN)	XP_016860309.1:p.Gln34059Arg
XM_017004821.1:c.102173A>G (TTN)	XP_016860310.1:p.Gln34058Arg
XM_017004822.1:c.99215A>G (TTN)	XP_016860311.1:p.Gln33072Arg
XM_017004823.1:c.80831A>G (TTN)	XP_016860312.1:p.Gln26944Arg
XM_024453094.1:c.102326A>G (TTN)	XP_024308862.1:p.Gln34109Arg
XM_024453095.1:c.102323A>G (TTN)	XP_024308863.1:p.Gln34108Arg
XM_024453096.1:c.101756A>G (TTN)	XP_024308864.1:p.Gln33919Arg
XM_024453097.1:c.99098A>G (TTN)	XP_024308865.1:p.Gln33033Arg
XM_024453098.1:c.99017A>G (TTN)	XP_024308866.1:p.Gln33006Arg
XM_024453099.1:c.80780A>G (TTN)	XP_024308867.1:p.Gln26927Arg
XM_024453100.1:c.70634A>G (TTN)	XP_024308868.1:p.Gln23545Arg