Canonical Allele Identifier: CA139752

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 47008
• ClinVar RCV Id: RCV003904967
• dbSNP Id: rs72677232
• ExAC: 2:179482937 C / T
• gnomAD v2: 2-179482937-C-T
• gnomAD v3: 2-178618210-C-T
• gnomAD v4: 2-178618210-C-T
• MyVariant Identifiers: chr2:g.179482937C>T (hg19) ; chr2:g.178618210C>T (hg38)
• PubMed: PMID:23396983 ; PMID:23861362 ; PMID:24892279

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178618210C>T , CM000664.2:g.178618210C>T	GRCh38
NC_000002.11:g.179482937C>T , CM000664.1:g.179482937C>T	GRCh37
NC_000002.10:g.179191182C>T	NCBI36
NG_011618.3:g.217593G>A , LRG_391:g.217593G>A
NG_051363.1:g.100384C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.39544G>A (TTN)	ENSP00000343764.6:p.Val13182Ile
ENST00000342175.11:c.20629G>A (TTN)	ENSP00000340554.6:p.Val6877Ile
ENST00000359218.10:c.20428G>A (TTN)	ENSP00000352154.5:p.Val6810Ile
ENST00000342175.10:c.20629G>A (TTN)	ENSP00000340554.6:p.Val6877Ile
ENST00000342992.10:c.39544G>A (TTN)	ENSP00000343764.6:p.Val13182Ile
ENST00000359218.9:c.20428G>A (TTN)	ENSP00000352154.5:p.Val6810Ile
ENST00000460472.6:c.20053G>A (TTN)	ENSP00000434586.1:p.Val6685Ile
ENST00000589042.5:c.47248G>A (TTN) MANE Select	ENSP00000467141.1:p.Val15750Ile
ENST00000591111.5:c.42325G>A (TTN)	ENSP00000465570.1:p.Val14109Ile
ENST00000615779.4:c.42325G>A (TTN)	ENSP00000483597.1:p.Val14109Ile
NM_001256850.1:c.42325G>A (TTN)	NP_001243779.1:p.Val14109Ile
NM_001267550.2:c.47248G>A (TTN) MANE Select	NP_001254479.2:p.Val15750Ile
NM_003319.4:c.20053G>A (TTN)	NP_003310.4:p.Val6685Ile
NM_133378.4:c.39544G>A (TTN)	NP_596869.4:p.Val13182Ile
NM_133432.3:c.20428G>A (TTN)	NP_597676.3:p.Val6810Ile
NM_133437.4:c.20629G>A (TTN)	NP_597681.4:p.Val6877Ile
NR_038271.1:n.1605-1543C>T (TTN-AS1)
XM_011511729.1:c.46345G>A (TTN)	XP_011510031.1:p.Val15449Ile
XM_011511730.1:c.20239G>A (TTN)	XP_011510032.1:p.Val6747Ile
XM_011511731.1:c.20098G>A (TTN)	XP_011510033.1:p.Val6700Ile
XM_017004819.1:c.46141G>A (TTN)	XP_016860308.1:p.Val15381Ile
XM_017004820.1:c.41539G>A (TTN)	XP_016860309.1:p.Val13847Ile
XM_017004821.1:c.41536G>A (TTN)	XP_016860310.1:p.Val13846Ile
XM_017004822.1:c.38578G>A (TTN)	XP_016860311.1:p.Val12860Ile
XM_017004823.1:c.20194G>A (TTN)	XP_016860312.1:p.Val6732Ile
XM_024453094.1:c.41689G>A (TTN)	XP_024308862.1:p.Val13897Ile
XM_024453095.1:c.41686G>A (TTN)	XP_024308863.1:p.Val13896Ile
XM_024453096.1:c.41119G>A (TTN)	XP_024308864.1:p.Val13707Ile
XM_024453097.1:c.38461G>A (TTN)	XP_024308865.1:p.Val12821Ile
XM_024453098.1:c.38380G>A (TTN)	XP_024308866.1:p.Val12794Ile
XM_024453099.1:c.20143G>A (TTN)	XP_024308867.1:p.Val6715Ile
XM_024453100.1:c.9997G>A (TTN)	XP_024308868.1:p.Val3333Ile