Canonical Allele Identifier: CA349611305

Gene: TTN TTN-AS1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.69605G>C (TTN)	ENSP00000343764.6:p.Arg23202Thr
ENST00000342175.11:c.50690G>C (TTN)	ENSP00000340554.6:p.Arg16897Thr
ENST00000359218.10:c.50489G>C (TTN)	ENSP00000352154.5:p.Arg16830Thr
ENST00000342175.10:c.50690G>C (TTN)	ENSP00000340554.6:p.Arg16897Thr
ENST00000342992.10:c.69605G>C (TTN)	ENSP00000343764.6:p.Arg23202Thr
ENST00000359218.9:c.50489G>C (TTN)	ENSP00000352154.5:p.Arg16830Thr
ENST00000460472.6:c.50114G>C (TTN)	ENSP00000434586.1:p.Arg16705Thr
ENST00000589042.5:c.77309G>C (TTN) MANE Select	ENSP00000467141.1:p.Arg25770Thr
ENST00000591111.5:c.72386G>C (TTN)	ENSP00000465570.1:p.Arg24129Thr
ENST00000615779.4:c.72386G>C (TTN)	ENSP00000483597.1:p.Arg24129Thr
NM_001256850.1:c.72386G>C (TTN)	NP_001243779.1:p.Arg24129Thr
NM_001267550.2:c.77309G>C (TTN) MANE Select	NP_001254479.2:p.Arg25770Thr
NM_003319.4:c.50114G>C (TTN)	NP_003310.4:p.Arg16705Thr
NM_133378.4:c.69605G>C (TTN)	NP_596869.4:p.Arg23202Thr
NM_133432.3:c.50489G>C (TTN)	NP_597676.3:p.Arg16830Thr
NM_133437.4:c.50690G>C (TTN)	NP_597681.4:p.Arg16897Thr
NR_038271.1:n.447-2477C>G (TTN-AS1)
NR_038272.1:n.2044-13749C>G (TTN-AS1)
XM_011511729.1:c.76406G>C (TTN)	XP_011510031.1:p.Arg25469Thr
XM_011511730.1:c.50300G>C (TTN)	XP_011510032.1:p.Arg16767Thr
XM_011511731.1:c.50159G>C (TTN)	XP_011510033.1:p.Arg16720Thr
XM_017004819.1:c.76202G>C (TTN)	XP_016860308.1:p.Arg25401Thr
XM_017004820.1:c.71600G>C (TTN)	XP_016860309.1:p.Arg23867Thr
XM_017004821.1:c.71597G>C (TTN)	XP_016860310.1:p.Arg23866Thr
XM_017004822.1:c.68639G>C (TTN)	XP_016860311.1:p.Arg22880Thr
XM_017004823.1:c.50255G>C (TTN)	XP_016860312.1:p.Arg16752Thr
XM_024453094.1:c.71750G>C (TTN)	XP_024308862.1:p.Arg23917Thr
XM_024453095.1:c.71747G>C (TTN)	XP_024308863.1:p.Arg23916Thr
XM_024453096.1:c.71180G>C (TTN)	XP_024308864.1:p.Arg23727Thr
XM_024453097.1:c.68522G>C (TTN)	XP_024308865.1:p.Arg22841Thr
XM_024453098.1:c.68441G>C (TTN)	XP_024308866.1:p.Arg22814Thr
XM_024453099.1:c.50204G>C (TTN)	XP_024308867.1:p.Arg16735Thr
XM_024453100.1:c.40058G>C (TTN)	XP_024308868.1:p.Arg13353Thr