Canonical Allele Identifier: CA349496553

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1305679009
• gnomAD v2: 2-179457778-T-G
• gnomAD v4: 2-178593051-T-G
• MyVariant Identifiers: chr2:g.179457778T>G (hg19) ; chr2:g.178593051T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178593051T>G , CM000664.2:g.178593051T>G	GRCh38
NC_000002.11:g.179457778T>G , CM000664.1:g.179457778T>G	GRCh37
NC_000002.10:g.179166024T>G	NCBI36
NG_011618.3:g.242752A>C , LRG_391:g.242752A>C
NG_051363.1:g.75225T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.51364A>C (TTN)	ENSP00000343764.6:p.Ile17122Leu
ENST00000342175.11:c.32449A>C (TTN)	ENSP00000340554.6:p.Ile10817Leu
ENST00000359218.10:c.32248A>C (TTN)	ENSP00000352154.5:p.Ile10750Leu
ENST00000342175.10:c.32449A>C (TTN)	ENSP00000340554.6:p.Ile10817Leu
ENST00000342992.10:c.51364A>C (TTN)	ENSP00000343764.6:p.Ile17122Leu
ENST00000359218.9:c.32248A>C (TTN)	ENSP00000352154.5:p.Ile10750Leu
ENST00000460472.6:c.31873A>C (TTN)	ENSP00000434586.1:p.Ile10625Leu
ENST00000589042.5:c.59068A>C (TTN) MANE Select	ENSP00000467141.1:p.Ile19690Leu
ENST00000591111.5:c.54145A>C (TTN)	ENSP00000465570.1:p.Ile18049Leu
ENST00000615779.4:c.54145A>C (TTN)	ENSP00000483597.1:p.Ile18049Leu
NM_001256850.1:c.54145A>C (TTN)	NP_001243779.1:p.Ile18049Leu
NM_001267550.2:c.59068A>C (TTN) MANE Select	NP_001254479.2:p.Ile19690Leu
NM_003319.4:c.31873A>C (TTN)	NP_003310.4:p.Ile10625Leu
NM_133378.4:c.51364A>C (TTN)	NP_596869.4:p.Ile17122Leu
NM_133432.3:c.32248A>C (TTN)	NP_597676.3:p.Ile10750Leu
NM_133437.4:c.32449A>C (TTN)	NP_597681.4:p.Ile10817Leu
NR_038271.1:n.597-4545T>G (TTN-AS1)
NR_038272.1:n.3364+1737T>G (TTN-AS1)
XM_011511729.1:c.58165A>C (TTN)	XP_011510031.1:p.Ile19389Leu
XM_011511730.1:c.32059A>C (TTN)	XP_011510032.1:p.Ile10687Leu
XM_011511731.1:c.31918A>C (TTN)	XP_011510033.1:p.Ile10640Leu
XM_017004819.1:c.57961A>C (TTN)	XP_016860308.1:p.Ile19321Leu
XM_017004820.1:c.53359A>C (TTN)	XP_016860309.1:p.Ile17787Leu
XM_017004821.1:c.53356A>C (TTN)	XP_016860310.1:p.Ile17786Leu
XM_017004822.1:c.50398A>C (TTN)	XP_016860311.1:p.Ile16800Leu
XM_017004823.1:c.32014A>C (TTN)	XP_016860312.1:p.Ile10672Leu
XM_024453094.1:c.53509A>C (TTN)	XP_024308862.1:p.Ile17837Leu
XM_024453095.1:c.53506A>C (TTN)	XP_024308863.1:p.Ile17836Leu
XM_024453096.1:c.52939A>C (TTN)	XP_024308864.1:p.Ile17647Leu
XM_024453097.1:c.50281A>C (TTN)	XP_024308865.1:p.Ile16761Leu
XM_024453098.1:c.50200A>C (TTN)	XP_024308866.1:p.Ile16734Leu
XM_024453099.1:c.31963A>C (TTN)	XP_024308867.1:p.Ile10655Leu
XM_024453100.1:c.21817A>C (TTN)	XP_024308868.1:p.Ile7273Leu