Canonical Allele Identifier: CA1994607

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 263747
• ClinVar RCV Id: RCV001079165 ; RCV001131042 ; RCV001133998 ; RCV001133999 ; RCV001134000 ; RCV001134001
• dbSNP Id: rs749308557
• ExAC: 2:179478615 G / A
• gnomAD v2: 2-179478615-G-A
• gnomAD v3: 2-178613888-G-A
• gnomAD v4: 2-178613888-G-A
• MyVariant Identifiers: chr2:g.179478615G>A (hg19) ; chr2:g.178613888G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178613888G>A , CM000664.2:g.178613888G>A	GRCh38
NC_000002.11:g.179478615G>A , CM000664.1:g.179478615G>A	GRCh37
NC_000002.10:g.179186860G>A	NCBI36
NG_011618.3:g.221915C>T , LRG_391:g.221915C>T
NG_051363.1:g.96062G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.41691C>T (TTN)	ENSP00000343764.6:p.Asp13897=
ENST00000342175.11:c.22776C>T (TTN)	ENSP00000340554.6:p.Asp7592=
ENST00000359218.10:c.22575C>T (TTN)	ENSP00000352154.5:p.Asp7525=
ENST00000342175.10:c.22776C>T (TTN)	ENSP00000340554.6:p.Asp7592=
ENST00000342992.10:c.41691C>T (TTN)	ENSP00000343764.6:p.Asp13897=
ENST00000359218.9:c.22575C>T (TTN)	ENSP00000352154.5:p.Asp7525=
ENST00000460472.6:c.22200C>T (TTN)	ENSP00000434586.1:p.Asp7400=
ENST00000589042.5:c.49395C>T (TTN) MANE Select	ENSP00000467141.1:p.Asp16465=
ENST00000591111.5:c.44472C>T (TTN)	ENSP00000465570.1:p.Asp14824=
ENST00000615779.4:c.44472C>T (TTN)	ENSP00000483597.1:p.Asp14824=
NM_001256850.1:c.44472C>T (TTN)	NP_001243779.1:p.Asp14824=
NM_001267550.2:c.49395C>T (TTN) MANE Select	NP_001254479.2:p.Asp16465=
NM_003319.4:c.22200C>T (TTN)	NP_003310.4:p.Asp7400=
NM_133378.4:c.41691C>T (TTN)	NP_596869.4:p.Asp13897=
NM_133432.3:c.22575C>T (TTN)	NP_597676.3:p.Asp7525=
NM_133437.4:c.22776C>T (TTN)	NP_597681.4:p.Asp7592=
NR_038271.1:n.783-147G>A (TTN-AS1)
XM_011511729.1:c.48492C>T (TTN)	XP_011510031.1:p.Asp16164=
XM_011511730.1:c.22386C>T (TTN)	XP_011510032.1:p.Asp7462=
XM_011511731.1:c.22245C>T (TTN)	XP_011510033.1:p.Asp7415=
XM_017004819.1:c.48288C>T (TTN)	XP_016860308.1:p.Asp16096=
XM_017004820.1:c.43686C>T (TTN)	XP_016860309.1:p.Asp14562=
XM_017004821.1:c.43683C>T (TTN)	XP_016860310.1:p.Asp14561=
XM_017004822.1:c.40725C>T (TTN)	XP_016860311.1:p.Asp13575=
XM_017004823.1:c.22341C>T (TTN)	XP_016860312.1:p.Asp7447=
XM_024453094.1:c.43836C>T (TTN)	XP_024308862.1:p.Asp14612=
XM_024453095.1:c.43833C>T (TTN)	XP_024308863.1:p.Asp14611=
XM_024453096.1:c.43266C>T (TTN)	XP_024308864.1:p.Asp14422=
XM_024453097.1:c.40608C>T (TTN)	XP_024308865.1:p.Asp13536=
XM_024453098.1:c.40527C>T (TTN)	XP_024308866.1:p.Asp13509=
XM_024453099.1:c.22290C>T (TTN)	XP_024308867.1:p.Asp7430=
XM_024453100.1:c.12144C>T (TTN)	XP_024308868.1:p.Asp4048=