Canonical Allele Identifier: CA349407136

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179395290T>G (hg19) ; chr2:g.178530563T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530563T>G , CM000664.2:g.178530563T>G	GRCh38
NC_000002.11:g.179395290T>G , CM000664.1:g.179395290T>G	GRCh37
NC_000002.10:g.179103536T>G	NCBI36
NG_011618.3:g.305240A>C , LRG_391:g.305240A>C
NG_051363.1:g.12737T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98348A>C (TTN)	ENSP00000343764.6:p.Glu32783Ala
ENST00000342175.11:c.79433A>C (TTN)	ENSP00000340554.6:p.Glu26478Ala
ENST00000359218.10:c.79232A>C (TTN)	ENSP00000352154.5:p.Glu26411Ala
ENST00000342175.10:c.79433A>C (TTN)	ENSP00000340554.6:p.Glu26478Ala
ENST00000342992.10:c.98348A>C (TTN)	ENSP00000343764.6:p.Glu32783Ala
ENST00000359218.9:c.79232A>C (TTN)	ENSP00000352154.5:p.Glu26411Ala
ENST00000460472.6:c.78857A>C (TTN)	ENSP00000434586.1:p.Glu26286Ala
ENST00000589042.5:c.106052A>C (TTN) MANE Select	ENSP00000467141.1:p.Glu35351Ala
ENST00000591111.5:c.101129A>C (TTN)	ENSP00000465570.1:p.Glu33710Ala
ENST00000615779.4:c.101129A>C (TTN)	ENSP00000483597.1:p.Glu33710Ala
NM_001256850.1:c.101129A>C (TTN)	NP_001243779.1:p.Glu33710Ala
NM_001267550.2:c.106052A>C (TTN) MANE Select	NP_001254479.2:p.Glu35351Ala
NM_003319.4:c.78857A>C (TTN)	NP_003310.4:p.Glu26286Ala
NM_133378.4:c.98348A>C (TTN)	NP_596869.4:p.Glu32783Ala
NM_133432.3:c.79232A>C (TTN)	NP_597676.3:p.Glu26411Ala
NM_133437.4:c.79433A>C (TTN)	NP_597681.4:p.Glu26478Ala
NR_038271.1:n.446+6927T>G (TTN-AS1)
NR_038272.1:n.220-5169T>G (TTN-AS1)
XM_011511729.1:c.105149A>C (TTN)	XP_011510031.1:p.Glu35050Ala
XM_011511730.1:c.79043A>C (TTN)	XP_011510032.1:p.Glu26348Ala
XM_011511731.1:c.78902A>C (TTN)	XP_011510033.1:p.Glu26301Ala
XM_017004819.1:c.104945A>C (TTN)	XP_016860308.1:p.Glu34982Ala
XM_017004820.1:c.100343A>C (TTN)	XP_016860309.1:p.Glu33448Ala
XM_017004821.1:c.100340A>C (TTN)	XP_016860310.1:p.Glu33447Ala
XM_017004822.1:c.97382A>C (TTN)	XP_016860311.1:p.Glu32461Ala
XM_017004823.1:c.78998A>C (TTN)	XP_016860312.1:p.Glu26333Ala
XM_024453094.1:c.100493A>C (TTN)	XP_024308862.1:p.Glu33498Ala
XM_024453095.1:c.100490A>C (TTN)	XP_024308863.1:p.Glu33497Ala
XM_024453096.1:c.99923A>C (TTN)	XP_024308864.1:p.Glu33308Ala
XM_024453097.1:c.97265A>C (TTN)	XP_024308865.1:p.Glu32422Ala
XM_024453098.1:c.97184A>C (TTN)	XP_024308866.1:p.Glu32395Ala
XM_024453099.1:c.78947A>C (TTN)	XP_024308867.1:p.Glu26316Ala
XM_024453100.1:c.68801A>C (TTN)	XP_024308868.1:p.Glu22934Ala