Canonical Allele Identifier: CA349426892

Gene: TTN TTN-AS1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.92336C>A (TTN)	ENSP00000343764.6:p.Ser30779Ter
ENST00000342175.11:c.73421C>A (TTN)	ENSP00000340554.6:p.Ser24474Ter
ENST00000359218.10:c.73220C>A (TTN)	ENSP00000352154.5:p.Ser24407Ter
ENST00000342175.10:c.73421C>A (TTN)	ENSP00000340554.6:p.Ser24474Ter
ENST00000342992.10:c.92336C>A (TTN)	ENSP00000343764.6:p.Ser30779Ter
ENST00000359218.9:c.73220C>A (TTN)	ENSP00000352154.5:p.Ser24407Ter
ENST00000460472.6:c.72845C>A (TTN)	ENSP00000434586.1:p.Ser24282Ter
ENST00000589042.5:c.100040C>A (TTN) MANE Select	ENSP00000467141.1:p.Ser33347Ter
ENST00000591111.5:c.95117C>A (TTN)	ENSP00000465570.1:p.Ser31706Ter
ENST00000615779.4:c.95117C>A (TTN)	ENSP00000483597.1:p.Ser31706Ter
NM_001256850.1:c.95117C>A (TTN)	NP_001243779.1:p.Ser31706Ter
NM_001267550.2:c.100040C>A (TTN) MANE Select	NP_001254479.2:p.Ser33347Ter
NM_003319.4:c.72845C>A (TTN)	NP_003310.4:p.Ser24282Ter
NM_133378.4:c.92336C>A (TTN)	NP_596869.4:p.Ser30779Ter
NM_133432.3:c.73220C>A (TTN)	NP_597676.3:p.Ser24407Ter
NM_133437.4:c.73421C>A (TTN)	NP_597681.4:p.Ser24474Ter
NR_038271.1:n.446+13433G>T (TTN-AS1)
NR_038272.1:n.317-292G>T (TTN-AS1)
XM_011511729.1:c.99137C>A (TTN)	XP_011510031.1:p.Ser33046Ter
XM_011511730.1:c.73031C>A (TTN)	XP_011510032.1:p.Ser24344Ter
XM_011511731.1:c.72890C>A (TTN)	XP_011510033.1:p.Ser24297Ter
XM_017004819.1:c.98933C>A (TTN)	XP_016860308.1:p.Ser32978Ter
XM_017004820.1:c.94331C>A (TTN)	XP_016860309.1:p.Ser31444Ter
XM_017004821.1:c.94328C>A (TTN)	XP_016860310.1:p.Ser31443Ter
XM_017004822.1:c.91370C>A (TTN)	XP_016860311.1:p.Ser30457Ter
XM_017004823.1:c.72986C>A (TTN)	XP_016860312.1:p.Ser24329Ter
XM_024453094.1:c.94481C>A (TTN)	XP_024308862.1:p.Ser31494Ter
XM_024453095.1:c.94478C>A (TTN)	XP_024308863.1:p.Ser31493Ter
XM_024453096.1:c.93911C>A (TTN)	XP_024308864.1:p.Ser31304Ter
XM_024453097.1:c.91253C>A (TTN)	XP_024308865.1:p.Ser30418Ter
XM_024453098.1:c.91172C>A (TTN)	XP_024308866.1:p.Ser30391Ter
XM_024453099.1:c.72935C>A (TTN)	XP_024308867.1:p.Ser24312Ter
XM_024453100.1:c.62789C>A (TTN)	XP_024308868.1:p.Ser20930Ter