Canonical Allele Identifier: CA349407167

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs2154132867
• MyVariant Identifiers: chr2:g.179395303T>G (hg19) ; chr2:g.178530576T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530576T>G , CM000664.2:g.178530576T>G	GRCh38
NC_000002.11:g.179395303T>G , CM000664.1:g.179395303T>G	GRCh37
NC_000002.10:g.179103549T>G	NCBI36
NG_011618.3:g.305227A>C , LRG_391:g.305227A>C
NG_051363.1:g.12750T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98335A>C (TTN)	ENSP00000343764.6:p.Asn32779His
ENST00000342175.11:c.79420A>C (TTN)	ENSP00000340554.6:p.Asn26474His
ENST00000359218.10:c.79219A>C (TTN)	ENSP00000352154.5:p.Asn26407His
ENST00000342175.10:c.79420A>C (TTN)	ENSP00000340554.6:p.Asn26474His
ENST00000342992.10:c.98335A>C (TTN)	ENSP00000343764.6:p.Asn32779His
ENST00000359218.9:c.79219A>C (TTN)	ENSP00000352154.5:p.Asn26407His
ENST00000460472.6:c.78844A>C (TTN)	ENSP00000434586.1:p.Asn26282His
ENST00000589042.5:c.106039A>C (TTN) MANE Select	ENSP00000467141.1:p.Asn35347His
ENST00000591111.5:c.101116A>C (TTN)	ENSP00000465570.1:p.Asn33706His
ENST00000615779.4:c.101116A>C (TTN)	ENSP00000483597.1:p.Asn33706His
NM_001256850.1:c.101116A>C (TTN)	NP_001243779.1:p.Asn33706His
NM_001267550.2:c.106039A>C (TTN) MANE Select	NP_001254479.2:p.Asn35347His
NM_003319.4:c.78844A>C (TTN)	NP_003310.4:p.Asn26282His
NM_133378.4:c.98335A>C (TTN)	NP_596869.4:p.Asn32779His
NM_133432.3:c.79219A>C (TTN)	NP_597676.3:p.Asn26407His
NM_133437.4:c.79420A>C (TTN)	NP_597681.4:p.Asn26474His
NR_038271.1:n.446+6940T>G (TTN-AS1)
NR_038272.1:n.220-5156T>G (TTN-AS1)
XM_011511729.1:c.105136A>C (TTN)	XP_011510031.1:p.Asn35046His
XM_011511730.1:c.79030A>C (TTN)	XP_011510032.1:p.Asn26344His
XM_011511731.1:c.78889A>C (TTN)	XP_011510033.1:p.Asn26297His
XM_017004819.1:c.104932A>C (TTN)	XP_016860308.1:p.Asn34978His
XM_017004820.1:c.100330A>C (TTN)	XP_016860309.1:p.Asn33444His
XM_017004821.1:c.100327A>C (TTN)	XP_016860310.1:p.Asn33443His
XM_017004822.1:c.97369A>C (TTN)	XP_016860311.1:p.Asn32457His
XM_017004823.1:c.78985A>C (TTN)	XP_016860312.1:p.Asn26329His
XM_024453094.1:c.100480A>C (TTN)	XP_024308862.1:p.Asn33494His
XM_024453095.1:c.100477A>C (TTN)	XP_024308863.1:p.Asn33493His
XM_024453096.1:c.99910A>C (TTN)	XP_024308864.1:p.Asn33304His
XM_024453097.1:c.97252A>C (TTN)	XP_024308865.1:p.Asn32418His
XM_024453098.1:c.97171A>C (TTN)	XP_024308866.1:p.Asn32391His
XM_024453099.1:c.78934A>C (TTN)	XP_024308867.1:p.Asn26312His
XM_024453100.1:c.68788A>C (TTN)	XP_024308868.1:p.Asn22930His