Canonical Allele Identifier: CA349612910

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179433841A>T (hg19) ; chr2:g.178569114A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178569114A>T , CM000664.2:g.178569114A>T	GRCh38
NC_000002.11:g.179433841A>T , CM000664.1:g.179433841A>T	GRCh37
NC_000002.10:g.179142087A>T	NCBI36
NG_011618.3:g.266689T>A , LRG_391:g.266689T>A
NG_051363.1:g.51288A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.69314T>A (TTN)	ENSP00000343764.6:p.Phe23105Tyr
ENST00000342175.11:c.50399T>A (TTN)	ENSP00000340554.6:p.Phe16800Tyr
ENST00000359218.10:c.50198T>A (TTN)	ENSP00000352154.5:p.Phe16733Tyr
ENST00000342175.10:c.50399T>A (TTN)	ENSP00000340554.6:p.Phe16800Tyr
ENST00000342992.10:c.69314T>A (TTN)	ENSP00000343764.6:p.Phe23105Tyr
ENST00000359218.9:c.50198T>A (TTN)	ENSP00000352154.5:p.Phe16733Tyr
ENST00000460472.6:c.49823T>A (TTN)	ENSP00000434586.1:p.Phe16608Tyr
ENST00000589042.5:c.77018T>A (TTN) MANE Select	ENSP00000467141.1:p.Phe25673Tyr
ENST00000591111.5:c.72095T>A (TTN)	ENSP00000465570.1:p.Phe24032Tyr
ENST00000615779.4:c.72095T>A (TTN)	ENSP00000483597.1:p.Phe24032Tyr
NM_001256850.1:c.72095T>A (TTN)	NP_001243779.1:p.Phe24032Tyr
NM_001267550.2:c.77018T>A (TTN) MANE Select	NP_001254479.2:p.Phe25673Tyr
NM_003319.4:c.49823T>A (TTN)	NP_003310.4:p.Phe16608Tyr
NM_133378.4:c.69314T>A (TTN)	NP_596869.4:p.Phe23105Tyr
NM_133432.3:c.50198T>A (TTN)	NP_597676.3:p.Phe16733Tyr
NM_133437.4:c.50399T>A (TTN)	NP_597681.4:p.Phe16800Tyr
NR_038271.1:n.447-2186A>T (TTN-AS1)
NR_038272.1:n.2044-13458A>T (TTN-AS1)
XM_011511729.1:c.76115T>A (TTN)	XP_011510031.1:p.Phe25372Tyr
XM_011511730.1:c.50009T>A (TTN)	XP_011510032.1:p.Phe16670Tyr
XM_011511731.1:c.49868T>A (TTN)	XP_011510033.1:p.Phe16623Tyr
XM_017004819.1:c.75911T>A (TTN)	XP_016860308.1:p.Phe25304Tyr
XM_017004820.1:c.71309T>A (TTN)	XP_016860309.1:p.Phe23770Tyr
XM_017004821.1:c.71306T>A (TTN)	XP_016860310.1:p.Phe23769Tyr
XM_017004822.1:c.68348T>A (TTN)	XP_016860311.1:p.Phe22783Tyr
XM_017004823.1:c.49964T>A (TTN)	XP_016860312.1:p.Phe16655Tyr
XM_024453094.1:c.71459T>A (TTN)	XP_024308862.1:p.Phe23820Tyr
XM_024453095.1:c.71456T>A (TTN)	XP_024308863.1:p.Phe23819Tyr
XM_024453096.1:c.70889T>A (TTN)	XP_024308864.1:p.Phe23630Tyr
XM_024453097.1:c.68231T>A (TTN)	XP_024308865.1:p.Phe22744Tyr
XM_024453098.1:c.68150T>A (TTN)	XP_024308866.1:p.Phe22717Tyr
XM_024453099.1:c.49913T>A (TTN)	XP_024308867.1:p.Phe16638Tyr
XM_024453100.1:c.39767T>A (TTN)	XP_024308868.1:p.Phe13256Tyr