Canonical Allele Identifier: CA1986178

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs532644861
• ExAC: 2:179402423 A / G
• gnomAD v2: 2-179402423-A-G
• gnomAD v3: 2-178537696-A-G
• gnomAD v4: 2-178537696-A-G
• MyVariant Identifiers: chr2:g.179402423A>G (hg19) ; chr2:g.178537696A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178537696A>G , CM000664.2:g.178537696A>G	GRCh38
NC_000002.11:g.179402423A>G , CM000664.1:g.179402423A>G	GRCh37
NC_000002.10:g.179110669A>G	NCBI36
NG_011618.3:g.298107T>C , LRG_391:g.298107T>C
NG_051363.1:g.19870A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.91807T>C (TTN)	ENSP00000343764.6:p.Tyr30603His
ENST00000342175.11:c.72892T>C (TTN)	ENSP00000340554.6:p.Tyr24298His
ENST00000359218.10:c.72691T>C (TTN)	ENSP00000352154.5:p.Tyr24231His
ENST00000342175.10:c.72892T>C (TTN)	ENSP00000340554.6:p.Tyr24298His
ENST00000342992.10:c.91807T>C (TTN)	ENSP00000343764.6:p.Tyr30603His
ENST00000359218.9:c.72691T>C (TTN)	ENSP00000352154.5:p.Tyr24231His
ENST00000460472.6:c.72316T>C (TTN)	ENSP00000434586.1:p.Tyr24106His
ENST00000589042.5:c.99511T>C (TTN) MANE Select	ENSP00000467141.1:p.Tyr33171His
ENST00000591111.5:c.94588T>C (TTN)	ENSP00000465570.1:p.Tyr31530His
ENST00000615779.4:c.94588T>C (TTN)	ENSP00000483597.1:p.Tyr31530His
NM_001256850.1:c.94588T>C (TTN)	NP_001243779.1:p.Tyr31530His
NM_001267550.2:c.99511T>C (TTN) MANE Select	NP_001254479.2:p.Tyr33171His
NM_003319.4:c.72316T>C (TTN)	NP_003310.4:p.Tyr24106His
NM_133378.4:c.91807T>C (TTN)	NP_596869.4:p.Tyr30603His
NM_133432.3:c.72691T>C (TTN)	NP_597676.3:p.Tyr24231His
NM_133437.4:c.72892T>C (TTN)	NP_597681.4:p.Tyr24298His
NR_038271.1:n.446+14060A>G (TTN-AS1)
NR_038272.1:n.647+5A>G (TTN-AS1)
XM_011511729.1:c.98608T>C (TTN)	XP_011510031.1:p.Tyr32870His
XM_011511730.1:c.72502T>C (TTN)	XP_011510032.1:p.Tyr24168His
XM_011511731.1:c.72361T>C (TTN)	XP_011510033.1:p.Tyr24121His
XM_017004819.1:c.98404T>C (TTN)	XP_016860308.1:p.Tyr32802His
XM_017004820.1:c.93802T>C (TTN)	XP_016860309.1:p.Tyr31268His
XM_017004821.1:c.93799T>C (TTN)	XP_016860310.1:p.Tyr31267His
XM_017004822.1:c.90841T>C (TTN)	XP_016860311.1:p.Tyr30281His
XM_017004823.1:c.72457T>C (TTN)	XP_016860312.1:p.Tyr24153His
XM_024453094.1:c.93952T>C (TTN)	XP_024308862.1:p.Tyr31318His
XM_024453095.1:c.93949T>C (TTN)	XP_024308863.1:p.Tyr31317His
XM_024453096.1:c.93382T>C (TTN)	XP_024308864.1:p.Tyr31128His
XM_024453097.1:c.90724T>C (TTN)	XP_024308865.1:p.Tyr30242His
XM_024453098.1:c.90643T>C (TTN)	XP_024308866.1:p.Tyr30215His
XM_024453099.1:c.72406T>C (TTN)	XP_024308867.1:p.Tyr24136His
XM_024453100.1:c.62260T>C (TTN)	XP_024308868.1:p.Tyr20754His