Canonical Allele Identifier: CA349510804

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179417196C>G (hg19) ; chr2:g.178552469C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178552469C>G , CM000664.2:g.178552469C>G	GRCh38
NC_000002.11:g.179417196C>G , CM000664.1:g.179417196C>G	GRCh37
NC_000002.10:g.179125442C>G	NCBI36
NG_011618.3:g.283334G>C , LRG_391:g.283334G>C
NG_051363.1:g.34643C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.82727G>C (TTN)	ENSP00000343764.6:p.Arg27576Thr
ENST00000342175.11:c.63812G>C (TTN)	ENSP00000340554.6:p.Arg21271Thr
ENST00000359218.10:c.63611G>C (TTN)	ENSP00000352154.5:p.Arg21204Thr
ENST00000342175.10:c.63812G>C (TTN)	ENSP00000340554.6:p.Arg21271Thr
ENST00000342992.10:c.82727G>C (TTN)	ENSP00000343764.6:p.Arg27576Thr
ENST00000359218.9:c.63611G>C (TTN)	ENSP00000352154.5:p.Arg21204Thr
ENST00000460472.6:c.63236G>C (TTN)	ENSP00000434586.1:p.Arg21079Thr
ENST00000589042.5:c.90431G>C (TTN) MANE Select	ENSP00000467141.1:p.Arg30144Thr
ENST00000591111.5:c.85508G>C (TTN)	ENSP00000465570.1:p.Arg28503Thr
ENST00000615779.4:c.85508G>C (TTN)	ENSP00000483597.1:p.Arg28503Thr
NM_001256850.1:c.85508G>C (TTN)	NP_001243779.1:p.Arg28503Thr
NM_001267550.2:c.90431G>C (TTN) MANE Select	NP_001254479.2:p.Arg30144Thr
NM_003319.4:c.63236G>C (TTN)	NP_003310.4:p.Arg21079Thr
NM_133378.4:c.82727G>C (TTN)	NP_596869.4:p.Arg27576Thr
NM_133432.3:c.63611G>C (TTN)	NP_597676.3:p.Arg21204Thr
NM_133437.4:c.63812G>C (TTN)	NP_597681.4:p.Arg21271Thr
NR_038271.1:n.447-18831C>G (TTN-AS1)
NR_038272.1:n.2043+10108C>G (TTN-AS1)
XM_011511729.1:c.89528G>C (TTN)	XP_011510031.1:p.Arg29843Thr
XM_011511730.1:c.63422G>C (TTN)	XP_011510032.1:p.Arg21141Thr
XM_011511731.1:c.63281G>C (TTN)	XP_011510033.1:p.Arg21094Thr
XM_017004819.1:c.89324G>C (TTN)	XP_016860308.1:p.Arg29775Thr
XM_017004820.1:c.84722G>C (TTN)	XP_016860309.1:p.Arg28241Thr
XM_017004821.1:c.84719G>C (TTN)	XP_016860310.1:p.Arg28240Thr
XM_017004822.1:c.81761G>C (TTN)	XP_016860311.1:p.Arg27254Thr
XM_017004823.1:c.63377G>C (TTN)	XP_016860312.1:p.Arg21126Thr
XM_024453094.1:c.84872G>C (TTN)	XP_024308862.1:p.Arg28291Thr
XM_024453095.1:c.84869G>C (TTN)	XP_024308863.1:p.Arg28290Thr
XM_024453096.1:c.84302G>C (TTN)	XP_024308864.1:p.Arg28101Thr
XM_024453097.1:c.81644G>C (TTN)	XP_024308865.1:p.Arg27215Thr
XM_024453098.1:c.81563G>C (TTN)	XP_024308866.1:p.Arg27188Thr
XM_024453099.1:c.63326G>C (TTN)	XP_024308867.1:p.Arg21109Thr
XM_024453100.1:c.53180G>C (TTN)	XP_024308868.1:p.Arg17727Thr