Canonical Allele Identifier: CA349610719

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179433468C>A (hg19) ; chr2:g.178568741C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178568741C>A , CM000664.2:g.178568741C>A	GRCh38
NC_000002.11:g.179433468C>A , CM000664.1:g.179433468C>A	GRCh37
NC_000002.10:g.179141714C>A	NCBI36
NG_011618.3:g.267062G>T , LRG_391:g.267062G>T
NG_051363.1:g.50915C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.69687G>T (TTN)	ENSP00000343764.6:p.Glu23229Asp
ENST00000342175.11:c.50772G>T (TTN)	ENSP00000340554.6:p.Glu16924Asp
ENST00000359218.10:c.50571G>T (TTN)	ENSP00000352154.5:p.Glu16857Asp
ENST00000342175.10:c.50772G>T (TTN)	ENSP00000340554.6:p.Glu16924Asp
ENST00000342992.10:c.69687G>T (TTN)	ENSP00000343764.6:p.Glu23229Asp
ENST00000359218.9:c.50571G>T (TTN)	ENSP00000352154.5:p.Glu16857Asp
ENST00000460472.6:c.50196G>T (TTN)	ENSP00000434586.1:p.Glu16732Asp
ENST00000589042.5:c.77391G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu25797Asp
ENST00000591111.5:c.72468G>T (TTN)	ENSP00000465570.1:p.Glu24156Asp
ENST00000615779.4:c.72468G>T (TTN)	ENSP00000483597.1:p.Glu24156Asp
NM_001256850.1:c.72468G>T (TTN)	NP_001243779.1:p.Glu24156Asp
NM_001267550.2:c.77391G>T (TTN) MANE Select	NP_001254479.2:p.Glu25797Asp
NM_003319.4:c.50196G>T (TTN)	NP_003310.4:p.Glu16732Asp
NM_133378.4:c.69687G>T (TTN)	NP_596869.4:p.Glu23229Asp
NM_133432.3:c.50571G>T (TTN)	NP_597676.3:p.Glu16857Asp
NM_133437.4:c.50772G>T (TTN)	NP_597681.4:p.Glu16924Asp
NR_038271.1:n.447-2559C>A (TTN-AS1)
NR_038272.1:n.2044-13831C>A (TTN-AS1)
XM_011511729.1:c.76488G>T (TTN)	XP_011510031.1:p.Glu25496Asp
XM_011511730.1:c.50382G>T (TTN)	XP_011510032.1:p.Glu16794Asp
XM_011511731.1:c.50241G>T (TTN)	XP_011510033.1:p.Glu16747Asp
XM_017004819.1:c.76284G>T (TTN)	XP_016860308.1:p.Glu25428Asp
XM_017004820.1:c.71682G>T (TTN)	XP_016860309.1:p.Glu23894Asp
XM_017004821.1:c.71679G>T (TTN)	XP_016860310.1:p.Glu23893Asp
XM_017004822.1:c.68721G>T (TTN)	XP_016860311.1:p.Glu22907Asp
XM_017004823.1:c.50337G>T (TTN)	XP_016860312.1:p.Glu16779Asp
XM_024453094.1:c.71832G>T (TTN)	XP_024308862.1:p.Glu23944Asp
XM_024453095.1:c.71829G>T (TTN)	XP_024308863.1:p.Glu23943Asp
XM_024453096.1:c.71262G>T (TTN)	XP_024308864.1:p.Glu23754Asp
XM_024453097.1:c.68604G>T (TTN)	XP_024308865.1:p.Glu22868Asp
XM_024453098.1:c.68523G>T (TTN)	XP_024308866.1:p.Glu22841Asp
XM_024453099.1:c.50286G>T (TTN)	XP_024308867.1:p.Glu16762Asp
XM_024453100.1:c.40140G>T (TTN)	XP_024308868.1:p.Glu13380Asp