Canonical Allele Identifier: CA349426890

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179401796G>A (hg19) ; chr2:g.178537069G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178537069G>A , CM000664.2:g.178537069G>A	GRCh38
NC_000002.11:g.179401796G>A , CM000664.1:g.179401796G>A	GRCh37
NC_000002.10:g.179110042G>A	NCBI36
NG_011618.3:g.298734C>T , LRG_391:g.298734C>T
NG_051363.1:g.19243G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.92336C>T (TTN)	ENSP00000343764.6:p.Ser30779Leu
ENST00000342175.11:c.73421C>T (TTN)	ENSP00000340554.6:p.Ser24474Leu
ENST00000359218.10:c.73220C>T (TTN)	ENSP00000352154.5:p.Ser24407Leu
ENST00000342175.10:c.73421C>T (TTN)	ENSP00000340554.6:p.Ser24474Leu
ENST00000342992.10:c.92336C>T (TTN)	ENSP00000343764.6:p.Ser30779Leu
ENST00000359218.9:c.73220C>T (TTN)	ENSP00000352154.5:p.Ser24407Leu
ENST00000460472.6:c.72845C>T (TTN)	ENSP00000434586.1:p.Ser24282Leu
ENST00000589042.5:c.100040C>T (TTN) MANE Select	ENSP00000467141.1:p.Ser33347Leu
ENST00000591111.5:c.95117C>T (TTN)	ENSP00000465570.1:p.Ser31706Leu
ENST00000615779.4:c.95117C>T (TTN)	ENSP00000483597.1:p.Ser31706Leu
NM_001256850.1:c.95117C>T (TTN)	NP_001243779.1:p.Ser31706Leu
NM_001267550.2:c.100040C>T (TTN) MANE Select	NP_001254479.2:p.Ser33347Leu
NM_003319.4:c.72845C>T (TTN)	NP_003310.4:p.Ser24282Leu
NM_133378.4:c.92336C>T (TTN)	NP_596869.4:p.Ser30779Leu
NM_133432.3:c.73220C>T (TTN)	NP_597676.3:p.Ser24407Leu
NM_133437.4:c.73421C>T (TTN)	NP_597681.4:p.Ser24474Leu
NR_038271.1:n.446+13433G>A (TTN-AS1)
NR_038272.1:n.317-292G>A (TTN-AS1)
XM_011511729.1:c.99137C>T (TTN)	XP_011510031.1:p.Ser33046Leu
XM_011511730.1:c.73031C>T (TTN)	XP_011510032.1:p.Ser24344Leu
XM_011511731.1:c.72890C>T (TTN)	XP_011510033.1:p.Ser24297Leu
XM_017004819.1:c.98933C>T (TTN)	XP_016860308.1:p.Ser32978Leu
XM_017004820.1:c.94331C>T (TTN)	XP_016860309.1:p.Ser31444Leu
XM_017004821.1:c.94328C>T (TTN)	XP_016860310.1:p.Ser31443Leu
XM_017004822.1:c.91370C>T (TTN)	XP_016860311.1:p.Ser30457Leu
XM_017004823.1:c.72986C>T (TTN)	XP_016860312.1:p.Ser24329Leu
XM_024453094.1:c.94481C>T (TTN)	XP_024308862.1:p.Ser31494Leu
XM_024453095.1:c.94478C>T (TTN)	XP_024308863.1:p.Ser31493Leu
XM_024453096.1:c.93911C>T (TTN)	XP_024308864.1:p.Ser31304Leu
XM_024453097.1:c.91253C>T (TTN)	XP_024308865.1:p.Ser30418Leu
XM_024453098.1:c.91172C>T (TTN)	XP_024308866.1:p.Ser30391Leu
XM_024453099.1:c.72935C>T (TTN)	XP_024308867.1:p.Ser24312Leu
XM_024453100.1:c.62789C>T (TTN)	XP_024308868.1:p.Ser20930Leu