Canonical Allele Identifier: CA349585621

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 535392
• ClinVar RCV Id: RCV000643347
• dbSNP Id: rs1553692607
• gnomAD v4: 2-178609969-C-T
• MyVariant Identifiers: chr2:g.179474696C>T (hg19) ; chr2:g.178609969C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178609969C>T , CM000664.2:g.178609969C>T	GRCh38
NC_000002.11:g.179474696C>T , CM000664.1:g.179474696C>T	GRCh37
NC_000002.10:g.179182941C>T	NCBI36
NG_011618.3:g.225834G>A , LRG_391:g.225834G>A
NG_051363.1:g.92143C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.43750G>A (TTN)	ENSP00000343764.6:p.Val14584Ile
ENST00000342175.11:c.24835G>A (TTN)	ENSP00000340554.6:p.Val8279Ile
ENST00000359218.10:c.24634G>A (TTN)	ENSP00000352154.5:p.Val8212Ile
ENST00000342175.10:c.24835G>A (TTN)	ENSP00000340554.6:p.Val8279Ile
ENST00000342992.10:c.43750G>A (TTN)	ENSP00000343764.6:p.Val14584Ile
ENST00000359218.9:c.24634G>A (TTN)	ENSP00000352154.5:p.Val8212Ile
ENST00000460472.6:c.24259G>A (TTN)	ENSP00000434586.1:p.Val8087Ile
ENST00000589042.5:c.51454G>A (TTN) MANE Select	ENSP00000467141.1:p.Val17152Ile
ENST00000591111.5:c.46531G>A (TTN)	ENSP00000465570.1:p.Val15511Ile
ENST00000615779.4:c.46531G>A (TTN)	ENSP00000483597.1:p.Val15511Ile
NM_001256850.1:c.46531G>A (TTN)	NP_001243779.1:p.Val15511Ile
NM_001267550.2:c.51454G>A (TTN) MANE Select	NP_001254479.2:p.Val17152Ile
NM_003319.4:c.24259G>A (TTN)	NP_003310.4:p.Val8087Ile
NM_133378.4:c.43750G>A (TTN)	NP_596869.4:p.Val14584Ile
NM_133432.3:c.24634G>A (TTN)	NP_597676.3:p.Val8212Ile
NM_133437.4:c.24835G>A (TTN)	NP_597681.4:p.Val8279Ile
NR_038271.1:n.782+1703C>T (TTN-AS1)
XM_011511729.1:c.50551G>A (TTN)	XP_011510031.1:p.Val16851Ile
XM_011511730.1:c.24445G>A (TTN)	XP_011510032.1:p.Val8149Ile
XM_011511731.1:c.24304G>A (TTN)	XP_011510033.1:p.Val8102Ile
XM_017004819.1:c.50347G>A (TTN)	XP_016860308.1:p.Val16783Ile
XM_017004820.1:c.45745G>A (TTN)	XP_016860309.1:p.Val15249Ile
XM_017004821.1:c.45742G>A (TTN)	XP_016860310.1:p.Val15248Ile
XM_017004822.1:c.42784G>A (TTN)	XP_016860311.1:p.Val14262Ile
XM_017004823.1:c.24400G>A (TTN)	XP_016860312.1:p.Val8134Ile
XM_024453094.1:c.45895G>A (TTN)	XP_024308862.1:p.Val15299Ile
XM_024453095.1:c.45892G>A (TTN)	XP_024308863.1:p.Val15298Ile
XM_024453096.1:c.45325G>A (TTN)	XP_024308864.1:p.Val15109Ile
XM_024453097.1:c.42667G>A (TTN)	XP_024308865.1:p.Val14223Ile
XM_024453098.1:c.42586G>A (TTN)	XP_024308866.1:p.Val14196Ile
XM_024453099.1:c.24349G>A (TTN)	XP_024308867.1:p.Val8117Ile
XM_024453100.1:c.14203G>A (TTN)	XP_024308868.1:p.Val4735Ile