Canonical Allele Identifier: CA349658765

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs2154171872
• gnomAD v4: 2-178574902-C-T
• MyVariant Identifiers: chr2:g.179439629C>T (hg19) ; chr2:g.178574902C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178574902C>T , CM000664.2:g.178574902C>T	GRCh38
NC_000002.11:g.179439629C>T , CM000664.1:g.179439629C>T	GRCh37
NC_000002.10:g.179147875C>T	NCBI36
NG_011618.3:g.260901G>A , LRG_391:g.260901G>A
NG_051363.1:g.57076C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.63526G>A (TTN)	ENSP00000343764.6:p.Val21176Ile
ENST00000342175.11:c.44611G>A (TTN)	ENSP00000340554.6:p.Val14871Ile
ENST00000359218.10:c.44410G>A (TTN)	ENSP00000352154.5:p.Val14804Ile
ENST00000342175.10:c.44611G>A (TTN)	ENSP00000340554.6:p.Val14871Ile
ENST00000342992.10:c.63526G>A (TTN)	ENSP00000343764.6:p.Val21176Ile
ENST00000359218.9:c.44410G>A (TTN)	ENSP00000352154.5:p.Val14804Ile
ENST00000460472.6:c.44035G>A (TTN)	ENSP00000434586.1:p.Val14679Ile
ENST00000589042.5:c.71230G>A (TTN) MANE Select	ENSP00000467141.1:p.Val23744Ile
ENST00000591111.5:c.66307G>A (TTN)	ENSP00000465570.1:p.Val22103Ile
ENST00000615779.4:c.66307G>A (TTN)	ENSP00000483597.1:p.Val22103Ile
NM_001256850.1:c.66307G>A (TTN)	NP_001243779.1:p.Val22103Ile
NM_001267550.2:c.71230G>A (TTN) MANE Select	NP_001254479.2:p.Val23744Ile
NM_003319.4:c.44035G>A (TTN)	NP_003310.4:p.Val14679Ile
NM_133378.4:c.63526G>A (TTN)	NP_596869.4:p.Val21176Ile
NM_133432.3:c.44410G>A (TTN)	NP_597676.3:p.Val14804Ile
NM_133437.4:c.44611G>A (TTN)	NP_597681.4:p.Val14871Ile
NR_038271.1:n.596+3453C>T (TTN-AS1)
NR_038272.1:n.2044-7670C>T (TTN-AS1)
XM_011511729.1:c.70327G>A (TTN)	XP_011510031.1:p.Val23443Ile
XM_011511730.1:c.44221G>A (TTN)	XP_011510032.1:p.Val14741Ile
XM_011511731.1:c.44080G>A (TTN)	XP_011510033.1:p.Val14694Ile
XM_017004819.1:c.70123G>A (TTN)	XP_016860308.1:p.Val23375Ile
XM_017004820.1:c.65521G>A (TTN)	XP_016860309.1:p.Val21841Ile
XM_017004821.1:c.65518G>A (TTN)	XP_016860310.1:p.Val21840Ile
XM_017004822.1:c.62560G>A (TTN)	XP_016860311.1:p.Val20854Ile
XM_017004823.1:c.44176G>A (TTN)	XP_016860312.1:p.Val14726Ile
XM_024453094.1:c.65671G>A (TTN)	XP_024308862.1:p.Val21891Ile
XM_024453095.1:c.65668G>A (TTN)	XP_024308863.1:p.Val21890Ile
XM_024453096.1:c.65101G>A (TTN)	XP_024308864.1:p.Val21701Ile
XM_024453097.1:c.62443G>A (TTN)	XP_024308865.1:p.Val20815Ile
XM_024453098.1:c.62362G>A (TTN)	XP_024308866.1:p.Val20788Ile
XM_024453099.1:c.44125G>A (TTN)	XP_024308867.1:p.Val14709Ile
XM_024453100.1:c.33979G>A (TTN)	XP_024308868.1:p.Val11327Ile