Canonical Allele Identifier: CA349427826

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179402316A>T (hg19) ; chr2:g.178537589A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178537589A>T , CM000664.2:g.178537589A>T	GRCh38
NC_000002.11:g.179402316A>T , CM000664.1:g.179402316A>T	GRCh37
NC_000002.10:g.179110562A>T	NCBI36
NG_011618.3:g.298214T>A , LRG_391:g.298214T>A
NG_051363.1:g.19763A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.91914T>A (TTN)	ENSP00000343764.6:p.Tyr30638Ter
ENST00000342175.11:c.72999T>A (TTN)	ENSP00000340554.6:p.Tyr24333Ter
ENST00000359218.10:c.72798T>A (TTN)	ENSP00000352154.5:p.Tyr24266Ter
ENST00000342175.10:c.72999T>A (TTN)	ENSP00000340554.6:p.Tyr24333Ter
ENST00000342992.10:c.91914T>A (TTN)	ENSP00000343764.6:p.Tyr30638Ter
ENST00000359218.9:c.72798T>A (TTN)	ENSP00000352154.5:p.Tyr24266Ter
ENST00000460472.6:c.72423T>A (TTN)	ENSP00000434586.1:p.Tyr24141Ter
ENST00000589042.5:c.99618T>A (TTN) MANE Select	ENSP00000467141.1:p.Tyr33206Ter
ENST00000591111.5:c.94695T>A (TTN)	ENSP00000465570.1:p.Tyr31565Ter
ENST00000615779.4:c.94695T>A (TTN)	ENSP00000483597.1:p.Tyr31565Ter
NM_001256850.1:c.94695T>A (TTN)	NP_001243779.1:p.Tyr31565Ter
NM_001267550.2:c.99618T>A (TTN) MANE Select	NP_001254479.2:p.Tyr33206Ter
NM_003319.4:c.72423T>A (TTN)	NP_003310.4:p.Tyr24141Ter
NM_133378.4:c.91914T>A (TTN)	NP_596869.4:p.Tyr30638Ter
NM_133432.3:c.72798T>A (TTN)	NP_597676.3:p.Tyr24266Ter
NM_133437.4:c.72999T>A (TTN)	NP_597681.4:p.Tyr24333Ter
NR_038271.1:n.446+13953A>T (TTN-AS1)
NR_038272.1:n.545A>T (TTN-AS1)
XM_011511729.1:c.98715T>A (TTN)	XP_011510031.1:p.Tyr32905Ter
XM_011511730.1:c.72609T>A (TTN)	XP_011510032.1:p.Tyr24203Ter
XM_011511731.1:c.72468T>A (TTN)	XP_011510033.1:p.Tyr24156Ter
XM_017004819.1:c.98511T>A (TTN)	XP_016860308.1:p.Tyr32837Ter
XM_017004820.1:c.93909T>A (TTN)	XP_016860309.1:p.Tyr31303Ter
XM_017004821.1:c.93906T>A (TTN)	XP_016860310.1:p.Tyr31302Ter
XM_017004822.1:c.90948T>A (TTN)	XP_016860311.1:p.Tyr30316Ter
XM_017004823.1:c.72564T>A (TTN)	XP_016860312.1:p.Tyr24188Ter
XM_024453094.1:c.94059T>A (TTN)	XP_024308862.1:p.Tyr31353Ter
XM_024453095.1:c.94056T>A (TTN)	XP_024308863.1:p.Tyr31352Ter
XM_024453096.1:c.93489T>A (TTN)	XP_024308864.1:p.Tyr31163Ter
XM_024453097.1:c.90831T>A (TTN)	XP_024308865.1:p.Tyr30277Ter
XM_024453098.1:c.90750T>A (TTN)	XP_024308866.1:p.Tyr30250Ter
XM_024453099.1:c.72513T>A (TTN)	XP_024308867.1:p.Tyr24171Ter
XM_024453100.1:c.62367T>A (TTN)	XP_024308868.1:p.Tyr20789Ter