Canonical Allele Identifier: CA349445803

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178543260-A-G
• MyVariant Identifiers: chr2:g.179407987A>G (hg19) ; chr2:g.178543260A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543260A>G , CM000664.2:g.178543260A>G	GRCh38
NC_000002.11:g.179407987A>G , CM000664.1:g.179407987A>G	GRCh37
NC_000002.10:g.179116233A>G	NCBI36
NG_011618.3:g.292543T>C , LRG_391:g.292543T>C
NG_051363.1:g.25434A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.89009T>C (TTN)	ENSP00000343764.6:p.Val29670Ala
ENST00000342175.11:c.70094T>C (TTN)	ENSP00000340554.6:p.Val23365Ala
ENST00000359218.10:c.69893T>C (TTN)	ENSP00000352154.5:p.Val23298Ala
ENST00000342175.10:c.70094T>C (TTN)	ENSP00000340554.6:p.Val23365Ala
ENST00000342992.10:c.89009T>C (TTN)	ENSP00000343764.6:p.Val29670Ala
ENST00000359218.9:c.69893T>C (TTN)	ENSP00000352154.5:p.Val23298Ala
ENST00000460472.6:c.69518T>C (TTN)	ENSP00000434586.1:p.Val23173Ala
ENST00000589042.5:c.96713T>C (TTN) MANE Select	ENSP00000467141.1:p.Val32238Ala
ENST00000591111.5:c.91790T>C (TTN)	ENSP00000465570.1:p.Val30597Ala
ENST00000615779.4:c.91790T>C (TTN)	ENSP00000483597.1:p.Val30597Ala
NM_001256850.1:c.91790T>C (TTN)	NP_001243779.1:p.Val30597Ala
NM_001267550.2:c.96713T>C (TTN) MANE Select	NP_001254479.2:p.Val32238Ala
NM_003319.4:c.69518T>C (TTN)	NP_003310.4:p.Val23173Ala
NM_133378.4:c.89009T>C (TTN)	NP_596869.4:p.Val29670Ala
NM_133432.3:c.69893T>C (TTN)	NP_597676.3:p.Val23298Ala
NM_133437.4:c.70094T>C (TTN)	NP_597681.4:p.Val23365Ala
NR_038271.1:n.446+19624A>G (TTN-AS1)
NR_038272.1:n.2043+899A>G (TTN-AS1)
XM_011511729.1:c.95810T>C (TTN)	XP_011510031.1:p.Val31937Ala
XM_011511730.1:c.69704T>C (TTN)	XP_011510032.1:p.Val23235Ala
XM_011511731.1:c.69563T>C (TTN)	XP_011510033.1:p.Val23188Ala
XM_017004819.1:c.95606T>C (TTN)	XP_016860308.1:p.Val31869Ala
XM_017004820.1:c.91004T>C (TTN)	XP_016860309.1:p.Val30335Ala
XM_017004821.1:c.91001T>C (TTN)	XP_016860310.1:p.Val30334Ala
XM_017004822.1:c.88043T>C (TTN)	XP_016860311.1:p.Val29348Ala
XM_017004823.1:c.69659T>C (TTN)	XP_016860312.1:p.Val23220Ala
XM_024453094.1:c.91154T>C (TTN)	XP_024308862.1:p.Val30385Ala
XM_024453095.1:c.91151T>C (TTN)	XP_024308863.1:p.Val30384Ala
XM_024453096.1:c.90584T>C (TTN)	XP_024308864.1:p.Val30195Ala
XM_024453097.1:c.87926T>C (TTN)	XP_024308865.1:p.Val29309Ala
XM_024453098.1:c.87845T>C (TTN)	XP_024308866.1:p.Val29282Ala
XM_024453099.1:c.69608T>C (TTN)	XP_024308867.1:p.Val23203Ala
XM_024453100.1:c.59462T>C (TTN)	XP_024308868.1:p.Val19821Ala