Canonical Allele Identifier: CA349411814

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179396941T>G (hg19) ; chr2:g.178532214T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532214T>G , CM000664.2:g.178532214T>G	GRCh38
NC_000002.11:g.179396941T>G , CM000664.1:g.179396941T>G	GRCh37
NC_000002.10:g.179105187T>G	NCBI36
NG_011618.3:g.303589A>C , LRG_391:g.303589A>C
NG_051363.1:g.14388T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96697A>C (TTN)	ENSP00000343764.6:p.Lys32233Gln
ENST00000342175.11:c.77782A>C (TTN)	ENSP00000340554.6:p.Lys25928Gln
ENST00000359218.10:c.77581A>C (TTN)	ENSP00000352154.5:p.Lys25861Gln
ENST00000342175.10:c.77782A>C (TTN)	ENSP00000340554.6:p.Lys25928Gln
ENST00000342992.10:c.96697A>C (TTN)	ENSP00000343764.6:p.Lys32233Gln
ENST00000359218.9:c.77581A>C (TTN)	ENSP00000352154.5:p.Lys25861Gln
ENST00000460472.6:c.77206A>C (TTN)	ENSP00000434586.1:p.Lys25736Gln
ENST00000589042.5:c.104401A>C (TTN) MANE Select	ENSP00000467141.1:p.Lys34801Gln
ENST00000591111.5:c.99478A>C (TTN)	ENSP00000465570.1:p.Lys33160Gln
ENST00000615779.4:c.99478A>C (TTN)	ENSP00000483597.1:p.Lys33160Gln
NM_001256850.1:c.99478A>C (TTN)	NP_001243779.1:p.Lys33160Gln
NM_001267550.2:c.104401A>C (TTN) MANE Select	NP_001254479.2:p.Lys34801Gln
NM_003319.4:c.77206A>C (TTN)	NP_003310.4:p.Lys25736Gln
NM_133378.4:c.96697A>C (TTN)	NP_596869.4:p.Lys32233Gln
NM_133432.3:c.77581A>C (TTN)	NP_597676.3:p.Lys25861Gln
NM_133437.4:c.77782A>C (TTN)	NP_597681.4:p.Lys25928Gln
NR_038271.1:n.446+8578T>G (TTN-AS1)
NR_038272.1:n.220-3518T>G (TTN-AS1)
XM_011511729.1:c.103498A>C (TTN)	XP_011510031.1:p.Lys34500Gln
XM_011511730.1:c.77392A>C (TTN)	XP_011510032.1:p.Lys25798Gln
XM_011511731.1:c.77251A>C (TTN)	XP_011510033.1:p.Lys25751Gln
XM_017004819.1:c.103294A>C (TTN)	XP_016860308.1:p.Lys34432Gln
XM_017004820.1:c.98692A>C (TTN)	XP_016860309.1:p.Lys32898Gln
XM_017004821.1:c.98689A>C (TTN)	XP_016860310.1:p.Lys32897Gln
XM_017004822.1:c.95731A>C (TTN)	XP_016860311.1:p.Lys31911Gln
XM_017004823.1:c.77347A>C (TTN)	XP_016860312.1:p.Lys25783Gln
XM_024453094.1:c.98842A>C (TTN)	XP_024308862.1:p.Lys32948Gln
XM_024453095.1:c.98839A>C (TTN)	XP_024308863.1:p.Lys32947Gln
XM_024453096.1:c.98272A>C (TTN)	XP_024308864.1:p.Lys32758Gln
XM_024453097.1:c.95614A>C (TTN)	XP_024308865.1:p.Lys31872Gln
XM_024453098.1:c.95533A>C (TTN)	XP_024308866.1:p.Lys31845Gln
XM_024453099.1:c.77296A>C (TTN)	XP_024308867.1:p.Lys25766Gln
XM_024453100.1:c.67150A>C (TTN)	XP_024308868.1:p.Lys22384Gln