Canonical Allele Identifier: CA349503258

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179416454T>A (hg19) ; chr2:g.178551727T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178551727T>A , CM000664.2:g.178551727T>A	GRCh38
NC_000002.11:g.179416454T>A , CM000664.1:g.179416454T>A	GRCh37
NC_000002.10:g.179124700T>A	NCBI36
NG_011618.3:g.284076A>T , LRG_391:g.284076A>T
NG_051363.1:g.33901T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.83469A>T (TTN)	ENSP00000343764.6:p.Glu27823Asp
ENST00000342175.11:c.64554A>T (TTN)	ENSP00000340554.6:p.Glu21518Asp
ENST00000359218.10:c.64353A>T (TTN)	ENSP00000352154.5:p.Glu21451Asp
ENST00000342175.10:c.64554A>T (TTN)	ENSP00000340554.6:p.Glu21518Asp
ENST00000342992.10:c.83469A>T (TTN)	ENSP00000343764.6:p.Glu27823Asp
ENST00000359218.9:c.64353A>T (TTN)	ENSP00000352154.5:p.Glu21451Asp
ENST00000460472.6:c.63978A>T (TTN)	ENSP00000434586.1:p.Glu21326Asp
ENST00000589042.5:c.91173A>T (TTN) MANE Select	ENSP00000467141.1:p.Glu30391Asp
ENST00000591111.5:c.86250A>T (TTN)	ENSP00000465570.1:p.Glu28750Asp
ENST00000615779.4:c.86250A>T (TTN)	ENSP00000483597.1:p.Glu28750Asp
NM_001256850.1:c.86250A>T (TTN)	NP_001243779.1:p.Glu28750Asp
NM_001267550.2:c.91173A>T (TTN) MANE Select	NP_001254479.2:p.Glu30391Asp
NM_003319.4:c.63978A>T (TTN)	NP_003310.4:p.Glu21326Asp
NM_133378.4:c.83469A>T (TTN)	NP_596869.4:p.Glu27823Asp
NM_133432.3:c.64353A>T (TTN)	NP_597676.3:p.Glu21451Asp
NM_133437.4:c.64554A>T (TTN)	NP_597681.4:p.Glu21518Asp
NR_038271.1:n.447-19573T>A (TTN-AS1)
NR_038272.1:n.2043+9366T>A (TTN-AS1)
XM_011511729.1:c.90270A>T (TTN)	XP_011510031.1:p.Glu30090Asp
XM_011511730.1:c.64164A>T (TTN)	XP_011510032.1:p.Glu21388Asp
XM_011511731.1:c.64023A>T (TTN)	XP_011510033.1:p.Glu21341Asp
XM_017004819.1:c.90066A>T (TTN)	XP_016860308.1:p.Glu30022Asp
XM_017004820.1:c.85464A>T (TTN)	XP_016860309.1:p.Glu28488Asp
XM_017004821.1:c.85461A>T (TTN)	XP_016860310.1:p.Glu28487Asp
XM_017004822.1:c.82503A>T (TTN)	XP_016860311.1:p.Glu27501Asp
XM_017004823.1:c.64119A>T (TTN)	XP_016860312.1:p.Glu21373Asp
XM_024453094.1:c.85614A>T (TTN)	XP_024308862.1:p.Glu28538Asp
XM_024453095.1:c.85611A>T (TTN)	XP_024308863.1:p.Glu28537Asp
XM_024453096.1:c.85044A>T (TTN)	XP_024308864.1:p.Glu28348Asp
XM_024453097.1:c.82386A>T (TTN)	XP_024308865.1:p.Glu27462Asp
XM_024453098.1:c.82305A>T (TTN)	XP_024308866.1:p.Glu27435Asp
XM_024453099.1:c.64068A>T (TTN)	XP_024308867.1:p.Glu21356Asp
XM_024453100.1:c.53922A>T (TTN)	XP_024308868.1:p.Glu17974Asp