Canonical Allele Identifier: CA349512587

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179417385C>G (hg19) ; chr2:g.178552658C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178552658C>G , CM000664.2:g.178552658C>G	GRCh38
NC_000002.11:g.179417385C>G , CM000664.1:g.179417385C>G	GRCh37
NC_000002.10:g.179125631C>G	NCBI36
NG_011618.3:g.283145G>C , LRG_391:g.283145G>C
NG_051363.1:g.34832C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.82538G>C (TTN)	ENSP00000343764.6:p.Gly27513Ala
ENST00000342175.11:c.63623G>C (TTN)	ENSP00000340554.6:p.Gly21208Ala
ENST00000359218.10:c.63422G>C (TTN)	ENSP00000352154.5:p.Gly21141Ala
ENST00000342175.10:c.63623G>C (TTN)	ENSP00000340554.6:p.Gly21208Ala
ENST00000342992.10:c.82538G>C (TTN)	ENSP00000343764.6:p.Gly27513Ala
ENST00000359218.9:c.63422G>C (TTN)	ENSP00000352154.5:p.Gly21141Ala
ENST00000460472.6:c.63047G>C (TTN)	ENSP00000434586.1:p.Gly21016Ala
ENST00000589042.5:c.90242G>C (TTN) MANE Select	ENSP00000467141.1:p.Gly30081Ala
ENST00000591111.5:c.85319G>C (TTN)	ENSP00000465570.1:p.Gly28440Ala
ENST00000615779.4:c.85319G>C (TTN)	ENSP00000483597.1:p.Gly28440Ala
NM_001256850.1:c.85319G>C (TTN)	NP_001243779.1:p.Gly28440Ala
NM_001267550.2:c.90242G>C (TTN) MANE Select	NP_001254479.2:p.Gly30081Ala
NM_003319.4:c.63047G>C (TTN)	NP_003310.4:p.Gly21016Ala
NM_133378.4:c.82538G>C (TTN)	NP_596869.4:p.Gly27513Ala
NM_133432.3:c.63422G>C (TTN)	NP_597676.3:p.Gly21141Ala
NM_133437.4:c.63623G>C (TTN)	NP_597681.4:p.Gly21208Ala
NR_038271.1:n.447-18642C>G (TTN-AS1)
NR_038272.1:n.2043+10297C>G (TTN-AS1)
XM_011511729.1:c.89339G>C (TTN)	XP_011510031.1:p.Gly29780Ala
XM_011511730.1:c.63233G>C (TTN)	XP_011510032.1:p.Gly21078Ala
XM_011511731.1:c.63092G>C (TTN)	XP_011510033.1:p.Gly21031Ala
XM_017004819.1:c.89135G>C (TTN)	XP_016860308.1:p.Gly29712Ala
XM_017004820.1:c.84533G>C (TTN)	XP_016860309.1:p.Gly28178Ala
XM_017004821.1:c.84530G>C (TTN)	XP_016860310.1:p.Gly28177Ala
XM_017004822.1:c.81572G>C (TTN)	XP_016860311.1:p.Gly27191Ala
XM_017004823.1:c.63188G>C (TTN)	XP_016860312.1:p.Gly21063Ala
XM_024453094.1:c.84683G>C (TTN)	XP_024308862.1:p.Gly28228Ala
XM_024453095.1:c.84680G>C (TTN)	XP_024308863.1:p.Gly28227Ala
XM_024453096.1:c.84113G>C (TTN)	XP_024308864.1:p.Gly28038Ala
XM_024453097.1:c.81455G>C (TTN)	XP_024308865.1:p.Gly27152Ala
XM_024453098.1:c.81374G>C (TTN)	XP_024308866.1:p.Gly27125Ala
XM_024453099.1:c.63137G>C (TTN)	XP_024308867.1:p.Gly21046Ala
XM_024453100.1:c.52991G>C (TTN)	XP_024308868.1:p.Gly17664Ala