Canonical Allele Identifier: CA349612904

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179433840A>T (hg19) ; chr2:g.178569113A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178569113A>T , CM000664.2:g.178569113A>T	GRCh38
NC_000002.11:g.179433840A>T , CM000664.1:g.179433840A>T	GRCh37
NC_000002.10:g.179142086A>T	NCBI36
NG_011618.3:g.266690T>A , LRG_391:g.266690T>A
NG_051363.1:g.51287A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.69315T>A (TTN)	ENSP00000343764.6:p.Phe23105Leu
ENST00000342175.11:c.50400T>A (TTN)	ENSP00000340554.6:p.Phe16800Leu
ENST00000359218.10:c.50199T>A (TTN)	ENSP00000352154.5:p.Phe16733Leu
ENST00000342175.10:c.50400T>A (TTN)	ENSP00000340554.6:p.Phe16800Leu
ENST00000342992.10:c.69315T>A (TTN)	ENSP00000343764.6:p.Phe23105Leu
ENST00000359218.9:c.50199T>A (TTN)	ENSP00000352154.5:p.Phe16733Leu
ENST00000460472.6:c.49824T>A (TTN)	ENSP00000434586.1:p.Phe16608Leu
ENST00000589042.5:c.77019T>A (TTN) MANE Select	ENSP00000467141.1:p.Phe25673Leu
ENST00000591111.5:c.72096T>A (TTN)	ENSP00000465570.1:p.Phe24032Leu
ENST00000615779.4:c.72096T>A (TTN)	ENSP00000483597.1:p.Phe24032Leu
NM_001256850.1:c.72096T>A (TTN)	NP_001243779.1:p.Phe24032Leu
NM_001267550.2:c.77019T>A (TTN) MANE Select	NP_001254479.2:p.Phe25673Leu
NM_003319.4:c.49824T>A (TTN)	NP_003310.4:p.Phe16608Leu
NM_133378.4:c.69315T>A (TTN)	NP_596869.4:p.Phe23105Leu
NM_133432.3:c.50199T>A (TTN)	NP_597676.3:p.Phe16733Leu
NM_133437.4:c.50400T>A (TTN)	NP_597681.4:p.Phe16800Leu
NR_038271.1:n.447-2187A>T (TTN-AS1)
NR_038272.1:n.2044-13459A>T (TTN-AS1)
XM_011511729.1:c.76116T>A (TTN)	XP_011510031.1:p.Phe25372Leu
XM_011511730.1:c.50010T>A (TTN)	XP_011510032.1:p.Phe16670Leu
XM_011511731.1:c.49869T>A (TTN)	XP_011510033.1:p.Phe16623Leu
XM_017004819.1:c.75912T>A (TTN)	XP_016860308.1:p.Phe25304Leu
XM_017004820.1:c.71310T>A (TTN)	XP_016860309.1:p.Phe23770Leu
XM_017004821.1:c.71307T>A (TTN)	XP_016860310.1:p.Phe23769Leu
XM_017004822.1:c.68349T>A (TTN)	XP_016860311.1:p.Phe22783Leu
XM_017004823.1:c.49965T>A (TTN)	XP_016860312.1:p.Phe16655Leu
XM_024453094.1:c.71460T>A (TTN)	XP_024308862.1:p.Phe23820Leu
XM_024453095.1:c.71457T>A (TTN)	XP_024308863.1:p.Phe23819Leu
XM_024453096.1:c.70890T>A (TTN)	XP_024308864.1:p.Phe23630Leu
XM_024453097.1:c.68232T>A (TTN)	XP_024308865.1:p.Phe22744Leu
XM_024453098.1:c.68151T>A (TTN)	XP_024308866.1:p.Phe22717Leu
XM_024453099.1:c.49914T>A (TTN)	XP_024308867.1:p.Phe16638Leu
XM_024453100.1:c.39768T>A (TTN)	XP_024308868.1:p.Phe13256Leu