Canonical Allele Identifier: CA349405594

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179394832T>A (hg19) ; chr2:g.178530105T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530105T>A , CM000664.2:g.178530105T>A	GRCh38
NC_000002.11:g.179394832T>A , CM000664.1:g.179394832T>A	GRCh37
NC_000002.10:g.179103078T>A	NCBI36
NG_011618.3:g.305698A>T , LRG_391:g.305698A>T
NG_051363.1:g.12279T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98682A>T (TTN)	ENSP00000343764.6:p.Gln32894His
ENST00000342175.11:c.79767A>T (TTN)	ENSP00000340554.6:p.Gln26589His
ENST00000359218.10:c.79566A>T (TTN)	ENSP00000352154.5:p.Gln26522His
ENST00000342175.10:c.79767A>T (TTN)	ENSP00000340554.6:p.Gln26589His
ENST00000342992.10:c.98682A>T (TTN)	ENSP00000343764.6:p.Gln32894His
ENST00000359218.9:c.79566A>T (TTN)	ENSP00000352154.5:p.Gln26522His
ENST00000460472.6:c.79191A>T (TTN)	ENSP00000434586.1:p.Gln26397His
ENST00000589042.5:c.106386A>T (TTN) MANE Select	ENSP00000467141.1:p.Gln35462His
ENST00000591111.5:c.101463A>T (TTN)	ENSP00000465570.1:p.Gln33821His
ENST00000615779.4:c.101463A>T (TTN)	ENSP00000483597.1:p.Gln33821His
NM_001256850.1:c.101463A>T (TTN)	NP_001243779.1:p.Gln33821His
NM_001267550.2:c.106386A>T (TTN) MANE Select	NP_001254479.2:p.Gln35462His
NM_003319.4:c.79191A>T (TTN)	NP_003310.4:p.Gln26397His
NM_133378.4:c.98682A>T (TTN)	NP_596869.4:p.Gln32894His
NM_133432.3:c.79566A>T (TTN)	NP_597676.3:p.Gln26522His
NM_133437.4:c.79767A>T (TTN)	NP_597681.4:p.Gln26589His
NR_038271.1:n.446+6469T>A (TTN-AS1)
NR_038272.1:n.220-5627T>A (TTN-AS1)
XM_011511729.1:c.105483A>T (TTN)	XP_011510031.1:p.Gln35161His
XM_011511730.1:c.79377A>T (TTN)	XP_011510032.1:p.Gln26459His
XM_011511731.1:c.79236A>T (TTN)	XP_011510033.1:p.Gln26412His
XM_017004819.1:c.105279A>T (TTN)	XP_016860308.1:p.Gln35093His
XM_017004820.1:c.100677A>T (TTN)	XP_016860309.1:p.Gln33559His
XM_017004821.1:c.100674A>T (TTN)	XP_016860310.1:p.Gln33558His
XM_017004822.1:c.97716A>T (TTN)	XP_016860311.1:p.Gln32572His
XM_017004823.1:c.79332A>T (TTN)	XP_016860312.1:p.Gln26444His
XM_024453094.1:c.100827A>T (TTN)	XP_024308862.1:p.Gln33609His
XM_024453095.1:c.100824A>T (TTN)	XP_024308863.1:p.Gln33608His
XM_024453096.1:c.100257A>T (TTN)	XP_024308864.1:p.Gln33419His
XM_024453097.1:c.97599A>T (TTN)	XP_024308865.1:p.Gln32533His
XM_024453098.1:c.97518A>T (TTN)	XP_024308866.1:p.Gln32506His
XM_024453099.1:c.79281A>T (TTN)	XP_024308867.1:p.Gln26427His
XM_024453100.1:c.69135A>T (TTN)	XP_024308868.1:p.Gln23045His