Canonical Allele Identifier: CA1994186

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs756877904
• ExAC: 2:179474698 G / A
• gnomAD v2: 2-179474698-G-A
• MyVariant Identifiers: chr2:g.179474698G>A (hg19) ; chr2:g.178609971G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178609971G>A , CM000664.2:g.178609971G>A	GRCh38
NC_000002.11:g.179474698G>A , CM000664.1:g.179474698G>A	GRCh37
NC_000002.10:g.179182943G>A	NCBI36
NG_011618.3:g.225832C>T , LRG_391:g.225832C>T
NG_051363.1:g.92145G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.43748C>T (TTN)	ENSP00000343764.6:p.Pro14583Leu
ENST00000342175.11:c.24833C>T (TTN)	ENSP00000340554.6:p.Pro8278Leu
ENST00000359218.10:c.24632C>T (TTN)	ENSP00000352154.5:p.Pro8211Leu
ENST00000342175.10:c.24833C>T (TTN)	ENSP00000340554.6:p.Pro8278Leu
ENST00000342992.10:c.43748C>T (TTN)	ENSP00000343764.6:p.Pro14583Leu
ENST00000359218.9:c.24632C>T (TTN)	ENSP00000352154.5:p.Pro8211Leu
ENST00000460472.6:c.24257C>T (TTN)	ENSP00000434586.1:p.Pro8086Leu
ENST00000589042.5:c.51452C>T (TTN) MANE Select	ENSP00000467141.1:p.Pro17151Leu
ENST00000591111.5:c.46529C>T (TTN)	ENSP00000465570.1:p.Pro15510Leu
ENST00000615779.4:c.46529C>T (TTN)	ENSP00000483597.1:p.Pro15510Leu
NM_001256850.1:c.46529C>T (TTN)	NP_001243779.1:p.Pro15510Leu
NM_001267550.2:c.51452C>T (TTN) MANE Select	NP_001254479.2:p.Pro17151Leu
NM_003319.4:c.24257C>T (TTN)	NP_003310.4:p.Pro8086Leu
NM_133378.4:c.43748C>T (TTN)	NP_596869.4:p.Pro14583Leu
NM_133432.3:c.24632C>T (TTN)	NP_597676.3:p.Pro8211Leu
NM_133437.4:c.24833C>T (TTN)	NP_597681.4:p.Pro8278Leu
NR_038271.1:n.782+1705G>A (TTN-AS1)
XM_011511729.1:c.50549C>T (TTN)	XP_011510031.1:p.Pro16850Leu
XM_011511730.1:c.24443C>T (TTN)	XP_011510032.1:p.Pro8148Leu
XM_011511731.1:c.24302C>T (TTN)	XP_011510033.1:p.Pro8101Leu
XM_017004819.1:c.50345C>T (TTN)	XP_016860308.1:p.Pro16782Leu
XM_017004820.1:c.45743C>T (TTN)	XP_016860309.1:p.Pro15248Leu
XM_017004821.1:c.45740C>T (TTN)	XP_016860310.1:p.Pro15247Leu
XM_017004822.1:c.42782C>T (TTN)	XP_016860311.1:p.Pro14261Leu
XM_017004823.1:c.24398C>T (TTN)	XP_016860312.1:p.Pro8133Leu
XM_024453094.1:c.45893C>T (TTN)	XP_024308862.1:p.Pro15298Leu
XM_024453095.1:c.45890C>T (TTN)	XP_024308863.1:p.Pro15297Leu
XM_024453096.1:c.45323C>T (TTN)	XP_024308864.1:p.Pro15108Leu
XM_024453097.1:c.42665C>T (TTN)	XP_024308865.1:p.Pro14222Leu
XM_024453098.1:c.42584C>T (TTN)	XP_024308866.1:p.Pro14195Leu
XM_024453099.1:c.24347C>T (TTN)	XP_024308867.1:p.Pro8116Leu
XM_024453100.1:c.14201C>T (TTN)	XP_024308868.1:p.Pro4734Leu