Canonical Allele Identifier: CA1989795

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs572569285
• ExAC: 2:179433556 A / G
• gnomAD v2: 2-179433556-A-G
• gnomAD v3: 2-178568829-A-G
• gnomAD v4: 2-178568829-A-G
• MyVariant Identifiers: chr2:g.179433556A>G (hg19) ; chr2:g.178568829A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178568829A>G , CM000664.2:g.178568829A>G	GRCh38
NC_000002.11:g.179433556A>G , CM000664.1:g.179433556A>G	GRCh37
NC_000002.10:g.179141802A>G	NCBI36
NG_011618.3:g.266974T>C , LRG_391:g.266974T>C
NG_051363.1:g.51003A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.69599T>C (TTN)	ENSP00000343764.6:p.Leu23200Pro
ENST00000342175.11:c.50684T>C (TTN)	ENSP00000340554.6:p.Leu16895Pro
ENST00000359218.10:c.50483T>C (TTN)	ENSP00000352154.5:p.Leu16828Pro
ENST00000342175.10:c.50684T>C (TTN)	ENSP00000340554.6:p.Leu16895Pro
ENST00000342992.10:c.69599T>C (TTN)	ENSP00000343764.6:p.Leu23200Pro
ENST00000359218.9:c.50483T>C (TTN)	ENSP00000352154.5:p.Leu16828Pro
ENST00000460472.6:c.50108T>C (TTN)	ENSP00000434586.1:p.Leu16703Pro
ENST00000589042.5:c.77303T>C (TTN) MANE Select	ENSP00000467141.1:p.Leu25768Pro
ENST00000591111.5:c.72380T>C (TTN)	ENSP00000465570.1:p.Leu24127Pro
ENST00000615779.4:c.72380T>C (TTN)	ENSP00000483597.1:p.Leu24127Pro
NM_001256850.1:c.72380T>C (TTN)	NP_001243779.1:p.Leu24127Pro
NM_001267550.2:c.77303T>C (TTN) MANE Select	NP_001254479.2:p.Leu25768Pro
NM_003319.4:c.50108T>C (TTN)	NP_003310.4:p.Leu16703Pro
NM_133378.4:c.69599T>C (TTN)	NP_596869.4:p.Leu23200Pro
NM_133432.3:c.50483T>C (TTN)	NP_597676.3:p.Leu16828Pro
NM_133437.4:c.50684T>C (TTN)	NP_597681.4:p.Leu16895Pro
NR_038271.1:n.447-2471A>G (TTN-AS1)
NR_038272.1:n.2044-13743A>G (TTN-AS1)
XM_011511729.1:c.76400T>C (TTN)	XP_011510031.1:p.Leu25467Pro
XM_011511730.1:c.50294T>C (TTN)	XP_011510032.1:p.Leu16765Pro
XM_011511731.1:c.50153T>C (TTN)	XP_011510033.1:p.Leu16718Pro
XM_017004819.1:c.76196T>C (TTN)	XP_016860308.1:p.Leu25399Pro
XM_017004820.1:c.71594T>C (TTN)	XP_016860309.1:p.Leu23865Pro
XM_017004821.1:c.71591T>C (TTN)	XP_016860310.1:p.Leu23864Pro
XM_017004822.1:c.68633T>C (TTN)	XP_016860311.1:p.Leu22878Pro
XM_017004823.1:c.50249T>C (TTN)	XP_016860312.1:p.Leu16750Pro
XM_024453094.1:c.71744T>C (TTN)	XP_024308862.1:p.Leu23915Pro
XM_024453095.1:c.71741T>C (TTN)	XP_024308863.1:p.Leu23914Pro
XM_024453096.1:c.71174T>C (TTN)	XP_024308864.1:p.Leu23725Pro
XM_024453097.1:c.68516T>C (TTN)	XP_024308865.1:p.Leu22839Pro
XM_024453098.1:c.68435T>C (TTN)	XP_024308866.1:p.Leu22812Pro
XM_024453099.1:c.50198T>C (TTN)	XP_024308867.1:p.Leu16733Pro
XM_024453100.1:c.40052T>C (TTN)	XP_024308868.1:p.Leu13351Pro