Canonical Allele Identifier: CA349445990

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178543291-A-G
• MyVariant Identifiers: chr2:g.179408018A>G (hg19) ; chr2:g.178543291A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543291A>G , CM000664.2:g.178543291A>G	GRCh38
NC_000002.11:g.179408018A>G , CM000664.1:g.179408018A>G	GRCh37
NC_000002.10:g.179116264A>G	NCBI36
NG_011618.3:g.292512T>C , LRG_391:g.292512T>C
NG_051363.1:g.25465A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88978T>C (TTN)	ENSP00000343764.6:p.Tyr29660His
ENST00000342175.11:c.70063T>C (TTN)	ENSP00000340554.6:p.Tyr23355His
ENST00000359218.10:c.69862T>C (TTN)	ENSP00000352154.5:p.Tyr23288His
ENST00000342175.10:c.70063T>C (TTN)	ENSP00000340554.6:p.Tyr23355His
ENST00000342992.10:c.88978T>C (TTN)	ENSP00000343764.6:p.Tyr29660His
ENST00000359218.9:c.69862T>C (TTN)	ENSP00000352154.5:p.Tyr23288His
ENST00000460472.6:c.69487T>C (TTN)	ENSP00000434586.1:p.Tyr23163His
ENST00000589042.5:c.96682T>C (TTN) MANE Select	ENSP00000467141.1:p.Tyr32228His
ENST00000591111.5:c.91759T>C (TTN)	ENSP00000465570.1:p.Tyr30587His
ENST00000615779.4:c.91759T>C (TTN)	ENSP00000483597.1:p.Tyr30587His
NM_001256850.1:c.91759T>C (TTN)	NP_001243779.1:p.Tyr30587His
NM_001267550.2:c.96682T>C (TTN) MANE Select	NP_001254479.2:p.Tyr32228His
NM_003319.4:c.69487T>C (TTN)	NP_003310.4:p.Tyr23163His
NM_133378.4:c.88978T>C (TTN)	NP_596869.4:p.Tyr29660His
NM_133432.3:c.69862T>C (TTN)	NP_597676.3:p.Tyr23288His
NM_133437.4:c.70063T>C (TTN)	NP_597681.4:p.Tyr23355His
NR_038271.1:n.446+19655A>G (TTN-AS1)
NR_038272.1:n.2043+930A>G (TTN-AS1)
XM_011511729.1:c.95779T>C (TTN)	XP_011510031.1:p.Tyr31927His
XM_011511730.1:c.69673T>C (TTN)	XP_011510032.1:p.Tyr23225His
XM_011511731.1:c.69532T>C (TTN)	XP_011510033.1:p.Tyr23178His
XM_017004819.1:c.95575T>C (TTN)	XP_016860308.1:p.Tyr31859His
XM_017004820.1:c.90973T>C (TTN)	XP_016860309.1:p.Tyr30325His
XM_017004821.1:c.90970T>C (TTN)	XP_016860310.1:p.Tyr30324His
XM_017004822.1:c.88012T>C (TTN)	XP_016860311.1:p.Tyr29338His
XM_017004823.1:c.69628T>C (TTN)	XP_016860312.1:p.Tyr23210His
XM_024453094.1:c.91123T>C (TTN)	XP_024308862.1:p.Tyr30375His
XM_024453095.1:c.91120T>C (TTN)	XP_024308863.1:p.Tyr30374His
XM_024453096.1:c.90553T>C (TTN)	XP_024308864.1:p.Tyr30185His
XM_024453097.1:c.87895T>C (TTN)	XP_024308865.1:p.Tyr29299His
XM_024453098.1:c.87814T>C (TTN)	XP_024308866.1:p.Tyr29272His
XM_024453099.1:c.69577T>C (TTN)	XP_024308867.1:p.Tyr23193His
XM_024453100.1:c.59431T>C (TTN)	XP_024308868.1:p.Tyr19811His