Canonical Allele Identifier: CA430091627

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 2952361
• ClinVar RCV Id: RCV003815512
• MyVariant Identifiers: chr2:g.179391817A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178527090A>T , CM000664.2:g.178527090A>T	GRCh38
NC_000002.11:g.179391817A>T , CM000664.1:g.179391817A>T	GRCh37
NC_000002.10:g.179100063A>T	NCBI36
NG_011618.3:g.308713T>A , LRG_391:g.308713T>A
NG_051363.1:g.9264A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.100194T>A (TTN)	ENSP00000343764.6:p.Gly33398=
ENST00000342175.11:c.81279T>A (TTN)	ENSP00000340554.6:p.Gly27093=
ENST00000359218.10:c.81078T>A (TTN)	ENSP00000352154.5:p.Gly27026=
ENST00000342175.10:c.81279T>A (TTN)	ENSP00000340554.6:p.Gly27093=
ENST00000342992.10:c.100194T>A (TTN)	ENSP00000343764.6:p.Gly33398=
ENST00000359218.9:c.81078T>A (TTN)	ENSP00000352154.5:p.Gly27026=
ENST00000460472.6:c.80703T>A (TTN)	ENSP00000434586.1:p.Gly26901=
ENST00000589042.5:c.107898T>A (TTN) MANE Select	ENSP00000467141.1:p.Gly35966=
ENST00000591111.5:c.102975T>A (TTN)	ENSP00000465570.1:p.Gly34325=
ENST00000615779.4:c.102975T>A (TTN)	ENSP00000483597.1:p.Gly34325=
NM_001256850.1:c.102975T>A (TTN)	NP_001243779.1:p.Gly34325=
NM_001267550.2:c.107898T>A (TTN) MANE Select	NP_001254479.2:p.Gly35966=
NM_003319.4:c.80703T>A (TTN)	NP_003310.4:p.Gly26901=
NM_133378.4:c.100194T>A (TTN)	NP_596869.4:p.Gly33398=
NM_133432.3:c.81078T>A (TTN)	NP_597676.3:p.Gly27026=
NM_133437.4:c.81279T>A (TTN)	NP_597681.4:p.Gly27093=
NR_038271.1:n.446+3454A>T (TTN-AS1)
NR_038272.1:n.219+3454A>T (TTN-AS1)
XM_011511729.1:c.106995T>A (TTN)	XP_011510031.1:p.Gly35665=
XM_011511730.1:c.80889T>A (TTN)	XP_011510032.1:p.Gly26963=
XM_011511731.1:c.80748T>A (TTN)	XP_011510033.1:p.Gly26916=
XM_017004819.1:c.106791T>A (TTN)	XP_016860308.1:p.Gly35597=
XM_017004820.1:c.102189T>A (TTN)	XP_016860309.1:p.Gly34063=
XM_017004821.1:c.102186T>A (TTN)	XP_016860310.1:p.Gly34062=
XM_017004822.1:c.99228T>A (TTN)	XP_016860311.1:p.Gly33076=
XM_017004823.1:c.80844T>A (TTN)	XP_016860312.1:p.Gly26948=
XM_024453094.1:c.102339T>A (TTN)	XP_024308862.1:p.Gly34113=
XM_024453095.1:c.102336T>A (TTN)	XP_024308863.1:p.Gly34112=
XM_024453096.1:c.101769T>A (TTN)	XP_024308864.1:p.Gly33923=
XM_024453097.1:c.99111T>A (TTN)	XP_024308865.1:p.Gly33037=
XM_024453098.1:c.99030T>A (TTN)	XP_024308866.1:p.Gly33010=
XM_024453099.1:c.80793T>A (TTN)	XP_024308867.1:p.Gly26931=
XM_024453100.1:c.70647T>A (TTN)	XP_024308868.1:p.Gly23549=