Canonical Allele Identifier: CA349405339

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178530065-A-G
• MyVariant Identifiers: chr2:g.179394792A>G (hg19) ; chr2:g.178530065A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530065A>G , CM000664.2:g.178530065A>G	GRCh38
NC_000002.11:g.179394792A>G , CM000664.1:g.179394792A>G	GRCh37
NC_000002.10:g.179103038A>G	NCBI36
NG_011618.3:g.305738T>C , LRG_391:g.305738T>C
NG_051363.1:g.12239A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98722T>C (TTN)	ENSP00000343764.6:p.Phe32908Leu
ENST00000342175.11:c.79807T>C (TTN)	ENSP00000340554.6:p.Phe26603Leu
ENST00000359218.10:c.79606T>C (TTN)	ENSP00000352154.5:p.Phe26536Leu
ENST00000342175.10:c.79807T>C (TTN)	ENSP00000340554.6:p.Phe26603Leu
ENST00000342992.10:c.98722T>C (TTN)	ENSP00000343764.6:p.Phe32908Leu
ENST00000359218.9:c.79606T>C (TTN)	ENSP00000352154.5:p.Phe26536Leu
ENST00000460472.6:c.79231T>C (TTN)	ENSP00000434586.1:p.Phe26411Leu
ENST00000589042.5:c.106426T>C (TTN) MANE Select	ENSP00000467141.1:p.Phe35476Leu
ENST00000591111.5:c.101503T>C (TTN)	ENSP00000465570.1:p.Phe33835Leu
ENST00000615779.4:c.101503T>C (TTN)	ENSP00000483597.1:p.Phe33835Leu
NM_001256850.1:c.101503T>C (TTN)	NP_001243779.1:p.Phe33835Leu
NM_001267550.2:c.106426T>C (TTN) MANE Select	NP_001254479.2:p.Phe35476Leu
NM_003319.4:c.79231T>C (TTN)	NP_003310.4:p.Phe26411Leu
NM_133378.4:c.98722T>C (TTN)	NP_596869.4:p.Phe32908Leu
NM_133432.3:c.79606T>C (TTN)	NP_597676.3:p.Phe26536Leu
NM_133437.4:c.79807T>C (TTN)	NP_597681.4:p.Phe26603Leu
NR_038271.1:n.446+6429A>G (TTN-AS1)
NR_038272.1:n.220-5667A>G (TTN-AS1)
XM_011511729.1:c.105523T>C (TTN)	XP_011510031.1:p.Phe35175Leu
XM_011511730.1:c.79417T>C (TTN)	XP_011510032.1:p.Phe26473Leu
XM_011511731.1:c.79276T>C (TTN)	XP_011510033.1:p.Phe26426Leu
XM_017004819.1:c.105319T>C (TTN)	XP_016860308.1:p.Phe35107Leu
XM_017004820.1:c.100717T>C (TTN)	XP_016860309.1:p.Phe33573Leu
XM_017004821.1:c.100714T>C (TTN)	XP_016860310.1:p.Phe33572Leu
XM_017004822.1:c.97756T>C (TTN)	XP_016860311.1:p.Phe32586Leu
XM_017004823.1:c.79372T>C (TTN)	XP_016860312.1:p.Phe26458Leu
XM_024453094.1:c.100867T>C (TTN)	XP_024308862.1:p.Phe33623Leu
XM_024453095.1:c.100864T>C (TTN)	XP_024308863.1:p.Phe33622Leu
XM_024453096.1:c.100297T>C (TTN)	XP_024308864.1:p.Phe33433Leu
XM_024453097.1:c.97639T>C (TTN)	XP_024308865.1:p.Phe32547Leu
XM_024453098.1:c.97558T>C (TTN)	XP_024308866.1:p.Phe32520Leu
XM_024453099.1:c.79321T>C (TTN)	XP_024308867.1:p.Phe26441Leu
XM_024453100.1:c.69175T>C (TTN)	XP_024308868.1:p.Phe23059Leu