Canonical Allele Identifier: CA349407141

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 2933599
• ClinVar RCV Id: RCV003793157
• dbSNP Id: rs1688663690
• gnomAD v3: 2-178530564-C-T
• gnomAD v4: 2-178530564-C-T
• MyVariant Identifiers: chr2:g.179395291C>T (hg19) ; chr2:g.178530564C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530564C>T , CM000664.2:g.178530564C>T	GRCh38
NC_000002.11:g.179395291C>T , CM000664.1:g.179395291C>T	GRCh37
NC_000002.10:g.179103537C>T	NCBI36
NG_011618.3:g.305239G>A , LRG_391:g.305239G>A
NG_051363.1:g.12738C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98347G>A (TTN)	ENSP00000343764.6:p.Glu32783Lys
ENST00000342175.11:c.79432G>A (TTN)	ENSP00000340554.6:p.Glu26478Lys
ENST00000359218.10:c.79231G>A (TTN)	ENSP00000352154.5:p.Glu26411Lys
ENST00000342175.10:c.79432G>A (TTN)	ENSP00000340554.6:p.Glu26478Lys
ENST00000342992.10:c.98347G>A (TTN)	ENSP00000343764.6:p.Glu32783Lys
ENST00000359218.9:c.79231G>A (TTN)	ENSP00000352154.5:p.Glu26411Lys
ENST00000460472.6:c.78856G>A (TTN)	ENSP00000434586.1:p.Glu26286Lys
ENST00000589042.5:c.106051G>A (TTN) MANE Select	ENSP00000467141.1:p.Glu35351Lys
ENST00000591111.5:c.101128G>A (TTN)	ENSP00000465570.1:p.Glu33710Lys
ENST00000615779.4:c.101128G>A (TTN)	ENSP00000483597.1:p.Glu33710Lys
NM_001256850.1:c.101128G>A (TTN)	NP_001243779.1:p.Glu33710Lys
NM_001267550.2:c.106051G>A (TTN) MANE Select	NP_001254479.2:p.Glu35351Lys
NM_003319.4:c.78856G>A (TTN)	NP_003310.4:p.Glu26286Lys
NM_133378.4:c.98347G>A (TTN)	NP_596869.4:p.Glu32783Lys
NM_133432.3:c.79231G>A (TTN)	NP_597676.3:p.Glu26411Lys
NM_133437.4:c.79432G>A (TTN)	NP_597681.4:p.Glu26478Lys
NR_038271.1:n.446+6928C>T (TTN-AS1)
NR_038272.1:n.220-5168C>T (TTN-AS1)
XM_011511729.1:c.105148G>A (TTN)	XP_011510031.1:p.Glu35050Lys
XM_011511730.1:c.79042G>A (TTN)	XP_011510032.1:p.Glu26348Lys
XM_011511731.1:c.78901G>A (TTN)	XP_011510033.1:p.Glu26301Lys
XM_017004819.1:c.104944G>A (TTN)	XP_016860308.1:p.Glu34982Lys
XM_017004820.1:c.100342G>A (TTN)	XP_016860309.1:p.Glu33448Lys
XM_017004821.1:c.100339G>A (TTN)	XP_016860310.1:p.Glu33447Lys
XM_017004822.1:c.97381G>A (TTN)	XP_016860311.1:p.Glu32461Lys
XM_017004823.1:c.78997G>A (TTN)	XP_016860312.1:p.Glu26333Lys
XM_024453094.1:c.100492G>A (TTN)	XP_024308862.1:p.Glu33498Lys
XM_024453095.1:c.100489G>A (TTN)	XP_024308863.1:p.Glu33497Lys
XM_024453096.1:c.99922G>A (TTN)	XP_024308864.1:p.Glu33308Lys
XM_024453097.1:c.97264G>A (TTN)	XP_024308865.1:p.Glu32422Lys
XM_024453098.1:c.97183G>A (TTN)	XP_024308866.1:p.Glu32395Lys
XM_024453099.1:c.78946G>A (TTN)	XP_024308867.1:p.Glu26316Lys
XM_024453100.1:c.68800G>A (TTN)	XP_024308868.1:p.Glu22934Lys