Canonical Allele Identifier: CA538434974

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1216382658
• gnomAD v2: 2-179394946-GAGA-G
• MyVariant Identifiers: chr2:g.179394947_179394949del (hg19) ; chr2:g.178530220_178530222del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530220_178530222del , CM000664.2:g.178530220_178530222del	GRCh38
NC_000002.11:g.179394947_179394949del , CM000664.1:g.179394947_179394949del	GRCh37
NC_000002.10:g.179103193_179103195del	NCBI36
NG_011618.3:g.305581_305583del , LRG_391:g.305581_305583del
NG_051363.1:g.12394_12396del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98670+19_98670+21del (TTN)	ENSP00000343764.6:n.98670+19_98670+21del
ENST00000342175.11:c.79755+19_79755+21del (TTN)	ENSP00000340554.6:n.79755+19_79755+21del
ENST00000359218.10:c.79554+19_79554+21del (TTN)	ENSP00000352154.5:n.79554+19_79554+21del
ENST00000342175.10:c.79755+19_79755+21del (TTN)	ENSP00000340554.6:n.79755+19_79755+21del
ENST00000342992.10:c.98670+19_98670+21del (TTN)	ENSP00000343764.6:n.98670+19_98670+21del
ENST00000359218.9:c.79554+19_79554+21del (TTN)	ENSP00000352154.5:n.79554+19_79554+21del
ENST00000460472.6:c.79179+19_79179+21del (TTN)	ENSP00000434586.1:n.79179+19_79179+21del
ENST00000589042.5:c.106374+19_106374+21del (TTN) MANE Select	ENSP00000467141.1:n.106374+19_106374+21del
ENST00000591111.5:c.101451+19_101451+21del (TTN)	ENSP00000465570.1:n.101451+19_101451+21del
ENST00000615779.4:c.101451+19_101451+21del (TTN)	ENSP00000483597.1:n.101451+19_101451+21del
NM_001256850.1:c.101451+19_101451+21del (TTN)	NP_001243779.1:n.101451+19_101451+21del
NM_001267550.2:c.106374+19_106374+21del (TTN) MANE Select	NP_001254479.2:n.106374+19_106374+21del
NM_003319.4:c.79179+19_79179+21del (TTN)	NP_003310.4:n.79179+19_79179+21del
NM_133378.4:c.98670+19_98670+21del (TTN)	NP_596869.4:n.98670+19_98670+21del
NM_133432.3:c.79554+19_79554+21del (TTN)	NP_597676.3:n.79554+19_79554+21del
NM_133437.4:c.79755+19_79755+21del (TTN)	NP_597681.4:n.79755+19_79755+21del
NR_038271.1:n.446+6584_446+6586del (TTN-AS1)
NR_038272.1:n.220-5512_220-5510del (TTN-AS1)
XM_011511729.1:c.105471+19_105471+21del (TTN)	XP_011510031.1:n.105471+19_105471+21del
XM_011511730.1:c.79365+19_79365+21del (TTN)	XP_011510032.1:n.79365+19_79365+21del
XM_011511731.1:c.79224+19_79224+21del (TTN)	XP_011510033.1:n.79224+19_79224+21del
XM_017004819.1:c.105267+19_105267+21del (TTN)	XP_016860308.1:n.105267+19_105267+21del
XM_017004820.1:c.100665+19_100665+21del (TTN)	XP_016860309.1:n.100665+19_100665+21del
XM_017004821.1:c.100662+19_100662+21del (TTN)	XP_016860310.1:n.100662+19_100662+21del
XM_017004822.1:c.97704+19_97704+21del (TTN)	XP_016860311.1:n.97704+19_97704+21del
XM_017004823.1:c.79320+19_79320+21del (TTN)	XP_016860312.1:n.79320+19_79320+21del
XM_024453094.1:c.100815+19_100815+21del (TTN)	XP_024308862.1:n.100815+19_100815+21del
XM_024453095.1:c.100812+19_100812+21del (TTN)	XP_024308863.1:n.100812+19_100812+21del
XM_024453096.1:c.100245+19_100245+21del (TTN)	XP_024308864.1:n.100245+19_100245+21del
XM_024453097.1:c.97587+19_97587+21del (TTN)	XP_024308865.1:n.97587+19_97587+21del
XM_024453098.1:c.97506+19_97506+21del (TTN)	XP_024308866.1:n.97506+19_97506+21del
XM_024453099.1:c.79269+19_79269+21del (TTN)	XP_024308867.1:n.79269+19_79269+21del
XM_024453100.1:c.69123+19_69123+21del (TTN)	XP_024308868.1:n.69123+19_69123+21del