Canonical Allele Identifier: CA349411816

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179396942T>G (hg19) ; chr2:g.178532215T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532215T>G , CM000664.2:g.178532215T>G	GRCh38
NC_000002.11:g.179396942T>G , CM000664.1:g.179396942T>G	GRCh37
NC_000002.10:g.179105188T>G	NCBI36
NG_011618.3:g.303588A>C , LRG_391:g.303588A>C
NG_051363.1:g.14389T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96696A>C (TTN)	ENSP00000343764.6:p.Arg32232Ser
ENST00000342175.11:c.77781A>C (TTN)	ENSP00000340554.6:p.Arg25927Ser
ENST00000359218.10:c.77580A>C (TTN)	ENSP00000352154.5:p.Arg25860Ser
ENST00000342175.10:c.77781A>C (TTN)	ENSP00000340554.6:p.Arg25927Ser
ENST00000342992.10:c.96696A>C (TTN)	ENSP00000343764.6:p.Arg32232Ser
ENST00000359218.9:c.77580A>C (TTN)	ENSP00000352154.5:p.Arg25860Ser
ENST00000460472.6:c.77205A>C (TTN)	ENSP00000434586.1:p.Arg25735Ser
ENST00000589042.5:c.104400A>C (TTN) MANE Select	ENSP00000467141.1:p.Arg34800Ser
ENST00000591111.5:c.99477A>C (TTN)	ENSP00000465570.1:p.Arg33159Ser
ENST00000615779.4:c.99477A>C (TTN)	ENSP00000483597.1:p.Arg33159Ser
NM_001256850.1:c.99477A>C (TTN)	NP_001243779.1:p.Arg33159Ser
NM_001267550.2:c.104400A>C (TTN) MANE Select	NP_001254479.2:p.Arg34800Ser
NM_003319.4:c.77205A>C (TTN)	NP_003310.4:p.Arg25735Ser
NM_133378.4:c.96696A>C (TTN)	NP_596869.4:p.Arg32232Ser
NM_133432.3:c.77580A>C (TTN)	NP_597676.3:p.Arg25860Ser
NM_133437.4:c.77781A>C (TTN)	NP_597681.4:p.Arg25927Ser
NR_038271.1:n.446+8579T>G (TTN-AS1)
NR_038272.1:n.220-3517T>G (TTN-AS1)
XM_011511729.1:c.103497A>C (TTN)	XP_011510031.1:p.Arg34499Ser
XM_011511730.1:c.77391A>C (TTN)	XP_011510032.1:p.Arg25797Ser
XM_011511731.1:c.77250A>C (TTN)	XP_011510033.1:p.Arg25750Ser
XM_017004819.1:c.103293A>C (TTN)	XP_016860308.1:p.Arg34431Ser
XM_017004820.1:c.98691A>C (TTN)	XP_016860309.1:p.Arg32897Ser
XM_017004821.1:c.98688A>C (TTN)	XP_016860310.1:p.Arg32896Ser
XM_017004822.1:c.95730A>C (TTN)	XP_016860311.1:p.Arg31910Ser
XM_017004823.1:c.77346A>C (TTN)	XP_016860312.1:p.Arg25782Ser
XM_024453094.1:c.98841A>C (TTN)	XP_024308862.1:p.Arg32947Ser
XM_024453095.1:c.98838A>C (TTN)	XP_024308863.1:p.Arg32946Ser
XM_024453096.1:c.98271A>C (TTN)	XP_024308864.1:p.Arg32757Ser
XM_024453097.1:c.95613A>C (TTN)	XP_024308865.1:p.Arg31871Ser
XM_024453098.1:c.95532A>C (TTN)	XP_024308866.1:p.Arg31844Ser
XM_024453099.1:c.77295A>C (TTN)	XP_024308867.1:p.Arg25765Ser
XM_024453100.1:c.67149A>C (TTN)	XP_024308868.1:p.Arg22383Ser