Canonical Allele Identifier: CA349611184

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 466658
• ClinVar RCV Id: RCV001378783
• dbSNP Id: rs1553600058
• MyVariant Identifiers: chr2:g.179433533C>A (hg19) ; chr2:g.178568806C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178568806C>A , CM000664.2:g.178568806C>A	GRCh38
NC_000002.11:g.179433533C>A , CM000664.1:g.179433533C>A	GRCh37
NC_000002.10:g.179141779C>A	NCBI36
NG_011618.3:g.266997G>T , LRG_391:g.266997G>T
NG_051363.1:g.50980C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.69622G>T (TTN)	ENSP00000343764.6:p.Glu23208Ter
ENST00000342175.11:c.50707G>T (TTN)	ENSP00000340554.6:p.Glu16903Ter
ENST00000359218.10:c.50506G>T (TTN)	ENSP00000352154.5:p.Glu16836Ter
ENST00000342175.10:c.50707G>T (TTN)	ENSP00000340554.6:p.Glu16903Ter
ENST00000342992.10:c.69622G>T (TTN)	ENSP00000343764.6:p.Glu23208Ter
ENST00000359218.9:c.50506G>T (TTN)	ENSP00000352154.5:p.Glu16836Ter
ENST00000460472.6:c.50131G>T (TTN)	ENSP00000434586.1:p.Glu16711Ter
ENST00000589042.5:c.77326G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu25776Ter
ENST00000591111.5:c.72403G>T (TTN)	ENSP00000465570.1:p.Glu24135Ter
ENST00000615779.4:c.72403G>T (TTN)	ENSP00000483597.1:p.Glu24135Ter
NM_001256850.1:c.72403G>T (TTN)	NP_001243779.1:p.Glu24135Ter
NM_001267550.2:c.77326G>T (TTN) MANE Select	NP_001254479.2:p.Glu25776Ter
NM_003319.4:c.50131G>T (TTN)	NP_003310.4:p.Glu16711Ter
NM_133378.4:c.69622G>T (TTN)	NP_596869.4:p.Glu23208Ter
NM_133432.3:c.50506G>T (TTN)	NP_597676.3:p.Glu16836Ter
NM_133437.4:c.50707G>T (TTN)	NP_597681.4:p.Glu16903Ter
NR_038271.1:n.447-2494C>A (TTN-AS1)
NR_038272.1:n.2044-13766C>A (TTN-AS1)
XM_011511729.1:c.76423G>T (TTN)	XP_011510031.1:p.Glu25475Ter
XM_011511730.1:c.50317G>T (TTN)	XP_011510032.1:p.Glu16773Ter
XM_011511731.1:c.50176G>T (TTN)	XP_011510033.1:p.Glu16726Ter
XM_017004819.1:c.76219G>T (TTN)	XP_016860308.1:p.Glu25407Ter
XM_017004820.1:c.71617G>T (TTN)	XP_016860309.1:p.Glu23873Ter
XM_017004821.1:c.71614G>T (TTN)	XP_016860310.1:p.Glu23872Ter
XM_017004822.1:c.68656G>T (TTN)	XP_016860311.1:p.Glu22886Ter
XM_017004823.1:c.50272G>T (TTN)	XP_016860312.1:p.Glu16758Ter
XM_024453094.1:c.71767G>T (TTN)	XP_024308862.1:p.Glu23923Ter
XM_024453095.1:c.71764G>T (TTN)	XP_024308863.1:p.Glu23922Ter
XM_024453096.1:c.71197G>T (TTN)	XP_024308864.1:p.Glu23733Ter
XM_024453097.1:c.68539G>T (TTN)	XP_024308865.1:p.Glu22847Ter
XM_024453098.1:c.68458G>T (TTN)	XP_024308866.1:p.Glu22820Ter
XM_024453099.1:c.50221G>T (TTN)	XP_024308867.1:p.Glu16741Ter
XM_024453100.1:c.40075G>T (TTN)	XP_024308868.1:p.Glu13359Ter