Canonical Allele Identifier: CA349411759

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179396916A>T (hg19) ; chr2:g.178532189A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532189A>T , CM000664.2:g.178532189A>T	GRCh38
NC_000002.11:g.179396916A>T , CM000664.1:g.179396916A>T	GRCh37
NC_000002.10:g.179105162A>T	NCBI36
NG_011618.3:g.303614T>A , LRG_391:g.303614T>A
NG_051363.1:g.14363A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96722T>A (TTN)	ENSP00000343764.6:p.Val32241Glu
ENST00000342175.11:c.77807T>A (TTN)	ENSP00000340554.6:p.Val25936Glu
ENST00000359218.10:c.77606T>A (TTN)	ENSP00000352154.5:p.Val25869Glu
ENST00000342175.10:c.77807T>A (TTN)	ENSP00000340554.6:p.Val25936Glu
ENST00000342992.10:c.96722T>A (TTN)	ENSP00000343764.6:p.Val32241Glu
ENST00000359218.9:c.77606T>A (TTN)	ENSP00000352154.5:p.Val25869Glu
ENST00000460472.6:c.77231T>A (TTN)	ENSP00000434586.1:p.Val25744Glu
ENST00000589042.5:c.104426T>A (TTN) MANE Select	ENSP00000467141.1:p.Val34809Glu
ENST00000591111.5:c.99503T>A (TTN)	ENSP00000465570.1:p.Val33168Glu
ENST00000615779.4:c.99503T>A (TTN)	ENSP00000483597.1:p.Val33168Glu
NM_001256850.1:c.99503T>A (TTN)	NP_001243779.1:p.Val33168Glu
NM_001267550.2:c.104426T>A (TTN) MANE Select	NP_001254479.2:p.Val34809Glu
NM_003319.4:c.77231T>A (TTN)	NP_003310.4:p.Val25744Glu
NM_133378.4:c.96722T>A (TTN)	NP_596869.4:p.Val32241Glu
NM_133432.3:c.77606T>A (TTN)	NP_597676.3:p.Val25869Glu
NM_133437.4:c.77807T>A (TTN)	NP_597681.4:p.Val25936Glu
NR_038271.1:n.446+8553A>T (TTN-AS1)
NR_038272.1:n.220-3543A>T (TTN-AS1)
XM_011511729.1:c.103523T>A (TTN)	XP_011510031.1:p.Val34508Glu
XM_011511730.1:c.77417T>A (TTN)	XP_011510032.1:p.Val25806Glu
XM_011511731.1:c.77276T>A (TTN)	XP_011510033.1:p.Val25759Glu
XM_017004819.1:c.103319T>A (TTN)	XP_016860308.1:p.Val34440Glu
XM_017004820.1:c.98717T>A (TTN)	XP_016860309.1:p.Val32906Glu
XM_017004821.1:c.98714T>A (TTN)	XP_016860310.1:p.Val32905Glu
XM_017004822.1:c.95756T>A (TTN)	XP_016860311.1:p.Val31919Glu
XM_017004823.1:c.77372T>A (TTN)	XP_016860312.1:p.Val25791Glu
XM_024453094.1:c.98867T>A (TTN)	XP_024308862.1:p.Val32956Glu
XM_024453095.1:c.98864T>A (TTN)	XP_024308863.1:p.Val32955Glu
XM_024453096.1:c.98297T>A (TTN)	XP_024308864.1:p.Val32766Glu
XM_024453097.1:c.95639T>A (TTN)	XP_024308865.1:p.Val31880Glu
XM_024453098.1:c.95558T>A (TTN)	XP_024308866.1:p.Val31853Glu
XM_024453099.1:c.77321T>A (TTN)	XP_024308867.1:p.Val25774Glu
XM_024453100.1:c.67175T>A (TTN)	XP_024308868.1:p.Val22392Glu