Canonical Allele Identifier: CA349598448

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179431608C>A (hg19) ; chr2:g.178566881C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178566881C>A , CM000664.2:g.178566881C>A	GRCh38
NC_000002.11:g.179431608C>A , CM000664.1:g.179431608C>A	GRCh37
NC_000002.10:g.179139854C>A	NCBI36
NG_011618.3:g.268922G>T , LRG_391:g.268922G>T
NG_051363.1:g.49055C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.71547G>T (TTN)	ENSP00000343764.6:p.Glu23849Asp
ENST00000342175.11:c.52632G>T (TTN)	ENSP00000340554.6:p.Glu17544Asp
ENST00000359218.10:c.52431G>T (TTN)	ENSP00000352154.5:p.Glu17477Asp
ENST00000342175.10:c.52632G>T (TTN)	ENSP00000340554.6:p.Glu17544Asp
ENST00000342992.10:c.71547G>T (TTN)	ENSP00000343764.6:p.Glu23849Asp
ENST00000359218.9:c.52431G>T (TTN)	ENSP00000352154.5:p.Glu17477Asp
ENST00000460472.6:c.52056G>T (TTN)	ENSP00000434586.1:p.Glu17352Asp
ENST00000589042.5:c.79251G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu26417Asp
ENST00000591111.5:c.74328G>T (TTN)	ENSP00000465570.1:p.Glu24776Asp
ENST00000615779.4:c.74328G>T (TTN)	ENSP00000483597.1:p.Glu24776Asp
NM_001256850.1:c.74328G>T (TTN)	NP_001243779.1:p.Glu24776Asp
NM_001267550.2:c.79251G>T (TTN) MANE Select	NP_001254479.2:p.Glu26417Asp
NM_003319.4:c.52056G>T (TTN)	NP_003310.4:p.Glu17352Asp
NM_133378.4:c.71547G>T (TTN)	NP_596869.4:p.Glu23849Asp
NM_133432.3:c.52431G>T (TTN)	NP_597676.3:p.Glu17477Asp
NM_133437.4:c.52632G>T (TTN)	NP_597681.4:p.Glu17544Asp
NR_038271.1:n.447-4419C>A (TTN-AS1)
NR_038272.1:n.2044-15691C>A (TTN-AS1)
XM_011511729.1:c.78348G>T (TTN)	XP_011510031.1:p.Glu26116Asp
XM_011511730.1:c.52242G>T (TTN)	XP_011510032.1:p.Glu17414Asp
XM_011511731.1:c.52101G>T (TTN)	XP_011510033.1:p.Glu17367Asp
XM_017004819.1:c.78144G>T (TTN)	XP_016860308.1:p.Glu26048Asp
XM_017004820.1:c.73542G>T (TTN)	XP_016860309.1:p.Glu24514Asp
XM_017004821.1:c.73539G>T (TTN)	XP_016860310.1:p.Glu24513Asp
XM_017004822.1:c.70581G>T (TTN)	XP_016860311.1:p.Glu23527Asp
XM_017004823.1:c.52197G>T (TTN)	XP_016860312.1:p.Glu17399Asp
XM_024453094.1:c.73692G>T (TTN)	XP_024308862.1:p.Glu24564Asp
XM_024453095.1:c.73689G>T (TTN)	XP_024308863.1:p.Glu24563Asp
XM_024453096.1:c.73122G>T (TTN)	XP_024308864.1:p.Glu24374Asp
XM_024453097.1:c.70464G>T (TTN)	XP_024308865.1:p.Glu23488Asp
XM_024453098.1:c.70383G>T (TTN)	XP_024308866.1:p.Glu23461Asp
XM_024453099.1:c.52146G>T (TTN)	XP_024308867.1:p.Glu17382Asp
XM_024453100.1:c.42000G>T (TTN)	XP_024308868.1:p.Glu14000Asp