Canonical Allele Identifier: CA349611301

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179433550C>A (hg19) ; chr2:g.178568823C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178568823C>A , CM000664.2:g.178568823C>A	GRCh38
NC_000002.11:g.179433550C>A , CM000664.1:g.179433550C>A	GRCh37
NC_000002.10:g.179141796C>A	NCBI36
NG_011618.3:g.266980G>T , LRG_391:g.266980G>T
NG_051363.1:g.50997C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.69605G>T (TTN)	ENSP00000343764.6:p.Arg23202Ile
ENST00000342175.11:c.50690G>T (TTN)	ENSP00000340554.6:p.Arg16897Ile
ENST00000359218.10:c.50489G>T (TTN)	ENSP00000352154.5:p.Arg16830Ile
ENST00000342175.10:c.50690G>T (TTN)	ENSP00000340554.6:p.Arg16897Ile
ENST00000342992.10:c.69605G>T (TTN)	ENSP00000343764.6:p.Arg23202Ile
ENST00000359218.9:c.50489G>T (TTN)	ENSP00000352154.5:p.Arg16830Ile
ENST00000460472.6:c.50114G>T (TTN)	ENSP00000434586.1:p.Arg16705Ile
ENST00000589042.5:c.77309G>T (TTN) MANE Select	ENSP00000467141.1:p.Arg25770Ile
ENST00000591111.5:c.72386G>T (TTN)	ENSP00000465570.1:p.Arg24129Ile
ENST00000615779.4:c.72386G>T (TTN)	ENSP00000483597.1:p.Arg24129Ile
NM_001256850.1:c.72386G>T (TTN)	NP_001243779.1:p.Arg24129Ile
NM_001267550.2:c.77309G>T (TTN) MANE Select	NP_001254479.2:p.Arg25770Ile
NM_003319.4:c.50114G>T (TTN)	NP_003310.4:p.Arg16705Ile
NM_133378.4:c.69605G>T (TTN)	NP_596869.4:p.Arg23202Ile
NM_133432.3:c.50489G>T (TTN)	NP_597676.3:p.Arg16830Ile
NM_133437.4:c.50690G>T (TTN)	NP_597681.4:p.Arg16897Ile
NR_038271.1:n.447-2477C>A (TTN-AS1)
NR_038272.1:n.2044-13749C>A (TTN-AS1)
XM_011511729.1:c.76406G>T (TTN)	XP_011510031.1:p.Arg25469Ile
XM_011511730.1:c.50300G>T (TTN)	XP_011510032.1:p.Arg16767Ile
XM_011511731.1:c.50159G>T (TTN)	XP_011510033.1:p.Arg16720Ile
XM_017004819.1:c.76202G>T (TTN)	XP_016860308.1:p.Arg25401Ile
XM_017004820.1:c.71600G>T (TTN)	XP_016860309.1:p.Arg23867Ile
XM_017004821.1:c.71597G>T (TTN)	XP_016860310.1:p.Arg23866Ile
XM_017004822.1:c.68639G>T (TTN)	XP_016860311.1:p.Arg22880Ile
XM_017004823.1:c.50255G>T (TTN)	XP_016860312.1:p.Arg16752Ile
XM_024453094.1:c.71750G>T (TTN)	XP_024308862.1:p.Arg23917Ile
XM_024453095.1:c.71747G>T (TTN)	XP_024308863.1:p.Arg23916Ile
XM_024453096.1:c.71180G>T (TTN)	XP_024308864.1:p.Arg23727Ile
XM_024453097.1:c.68522G>T (TTN)	XP_024308865.1:p.Arg22841Ile
XM_024453098.1:c.68441G>T (TTN)	XP_024308866.1:p.Arg22814Ile
XM_024453099.1:c.50204G>T (TTN)	XP_024308867.1:p.Arg16735Ile
XM_024453100.1:c.40058G>T (TTN)	XP_024308868.1:p.Arg13353Ile