Canonical Allele Identifier: CA349471638

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179411506T>A (hg19) ; chr2:g.178546779T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178546779T>A , CM000664.2:g.178546779T>A	GRCh38
NC_000002.11:g.179411506T>A , CM000664.1:g.179411506T>A	GRCh37
NC_000002.10:g.179119752T>A	NCBI36
NG_011618.3:g.289024A>T , LRG_391:g.289024A>T
NG_051363.1:g.28953T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.86945A>T (TTN)	ENSP00000343764.6:p.Glu28982Val
ENST00000342175.11:c.68030A>T (TTN)	ENSP00000340554.6:p.Glu22677Val
ENST00000359218.10:c.67829A>T (TTN)	ENSP00000352154.5:p.Glu22610Val
ENST00000342175.10:c.68030A>T (TTN)	ENSP00000340554.6:p.Glu22677Val
ENST00000342992.10:c.86945A>T (TTN)	ENSP00000343764.6:p.Glu28982Val
ENST00000359218.9:c.67829A>T (TTN)	ENSP00000352154.5:p.Glu22610Val
ENST00000460472.6:c.67454A>T (TTN)	ENSP00000434586.1:p.Glu22485Val
ENST00000589042.5:c.94649A>T (TTN) MANE Select	ENSP00000467141.1:p.Glu31550Val
ENST00000591111.5:c.89726A>T (TTN)	ENSP00000465570.1:p.Glu29909Val
ENST00000615779.4:c.89726A>T (TTN)	ENSP00000483597.1:p.Glu29909Val
NM_001256850.1:c.89726A>T (TTN)	NP_001243779.1:p.Glu29909Val
NM_001267550.2:c.94649A>T (TTN) MANE Select	NP_001254479.2:p.Glu31550Val
NM_003319.4:c.67454A>T (TTN)	NP_003310.4:p.Glu22485Val
NM_133378.4:c.86945A>T (TTN)	NP_596869.4:p.Glu28982Val
NM_133432.3:c.67829A>T (TTN)	NP_597676.3:p.Glu22610Val
NM_133437.4:c.68030A>T (TTN)	NP_597681.4:p.Glu22677Val
NR_038271.1:n.446+23143T>A (TTN-AS1)
NR_038272.1:n.2043+4418T>A (TTN-AS1)
XM_011511729.1:c.93746A>T (TTN)	XP_011510031.1:p.Glu31249Val
XM_011511730.1:c.67640A>T (TTN)	XP_011510032.1:p.Glu22547Val
XM_011511731.1:c.67499A>T (TTN)	XP_011510033.1:p.Glu22500Val
XM_017004819.1:c.93542A>T (TTN)	XP_016860308.1:p.Glu31181Val
XM_017004820.1:c.88940A>T (TTN)	XP_016860309.1:p.Glu29647Val
XM_017004821.1:c.88937A>T (TTN)	XP_016860310.1:p.Glu29646Val
XM_017004822.1:c.85979A>T (TTN)	XP_016860311.1:p.Glu28660Val
XM_017004823.1:c.67595A>T (TTN)	XP_016860312.1:p.Glu22532Val
XM_024453094.1:c.89090A>T (TTN)	XP_024308862.1:p.Glu29697Val
XM_024453095.1:c.89087A>T (TTN)	XP_024308863.1:p.Glu29696Val
XM_024453096.1:c.88520A>T (TTN)	XP_024308864.1:p.Glu29507Val
XM_024453097.1:c.85862A>T (TTN)	XP_024308865.1:p.Glu28621Val
XM_024453098.1:c.85781A>T (TTN)	XP_024308866.1:p.Glu28594Val
XM_024453099.1:c.67544A>T (TTN)	XP_024308867.1:p.Glu22515Val
XM_024453100.1:c.57398A>T (TTN)	XP_024308868.1:p.Glu19133Val