Canonical Allele Identifier: CA1993542

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 2690371
• ClinVar RCV Id: RCV003491786
• dbSNP Id: rs769334194
• ExAC: 2:179467075 C / T
• gnomAD v2: 2-179467075-C-T
• gnomAD v3: 2-178602348-C-T
• gnomAD v4: 2-178602348-C-T
• MyVariant Identifiers: chr2:g.179467075C>T (hg19) ; chr2:g.178602348C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178602348C>T , CM000664.2:g.178602348C>T	GRCh38
NC_000002.11:g.179467075C>T , CM000664.1:g.179467075C>T	GRCh37
NC_000002.10:g.179175320C>T	NCBI36
NG_011618.3:g.233455G>A , LRG_391:g.233455G>A
NG_051363.1:g.84522C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.47350G>A (TTN)	ENSP00000343764.6:p.Val15784Ile
ENST00000342175.11:c.28435G>A (TTN)	ENSP00000340554.6:p.Val9479Ile
ENST00000359218.10:c.28234G>A (TTN)	ENSP00000352154.5:p.Val9412Ile
ENST00000342175.10:c.28435G>A (TTN)	ENSP00000340554.6:p.Val9479Ile
ENST00000342992.10:c.47350G>A (TTN)	ENSP00000343764.6:p.Val15784Ile
ENST00000359218.9:c.28234G>A (TTN)	ENSP00000352154.5:p.Val9412Ile
ENST00000460472.6:c.27859G>A (TTN)	ENSP00000434586.1:p.Val9287Ile
ENST00000589042.5:c.55054G>A (TTN) MANE Select	ENSP00000467141.1:p.Val18352Ile
ENST00000591111.5:c.50131G>A (TTN)	ENSP00000465570.1:p.Val16711Ile
ENST00000615779.4:c.50131G>A (TTN)	ENSP00000483597.1:p.Val16711Ile
NM_001256850.1:c.50131G>A (TTN)	NP_001243779.1:p.Val16711Ile
NM_001267550.2:c.55054G>A (TTN) MANE Select	NP_001254479.2:p.Val18352Ile
NM_003319.4:c.27859G>A (TTN)	NP_003310.4:p.Val9287Ile
NM_133378.4:c.47350G>A (TTN)	NP_596869.4:p.Val15784Ile
NM_133432.3:c.28234G>A (TTN)	NP_597676.3:p.Val9412Ile
NM_133437.4:c.28435G>A (TTN)	NP_597681.4:p.Val9479Ile
NR_038271.1:n.682+4667C>T (TTN-AS1)
NR_038272.1:n.3917+1681C>T (TTN-AS1)
XM_011511729.1:c.54151G>A (TTN)	XP_011510031.1:p.Val18051Ile
XM_011511730.1:c.28045G>A (TTN)	XP_011510032.1:p.Val9349Ile
XM_011511731.1:c.27904G>A (TTN)	XP_011510033.1:p.Val9302Ile
XM_017004819.1:c.53947G>A (TTN)	XP_016860308.1:p.Val17983Ile
XM_017004820.1:c.49345G>A (TTN)	XP_016860309.1:p.Val16449Ile
XM_017004821.1:c.49342G>A (TTN)	XP_016860310.1:p.Val16448Ile
XM_017004822.1:c.46384G>A (TTN)	XP_016860311.1:p.Val15462Ile
XM_017004823.1:c.28000G>A (TTN)	XP_016860312.1:p.Val9334Ile
XM_024453094.1:c.49495G>A (TTN)	XP_024308862.1:p.Val16499Ile
XM_024453095.1:c.49492G>A (TTN)	XP_024308863.1:p.Val16498Ile
XM_024453096.1:c.48925G>A (TTN)	XP_024308864.1:p.Val16309Ile
XM_024453097.1:c.46267G>A (TTN)	XP_024308865.1:p.Val15423Ile
XM_024453098.1:c.46186G>A (TTN)	XP_024308866.1:p.Val15396Ile
XM_024453099.1:c.27949G>A (TTN)	XP_024308867.1:p.Val9317Ile
XM_024453100.1:c.17803G>A (TTN)	XP_024308868.1:p.Val5935Ile