Canonical Allele Identifier: CA349493240

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179413902C>G (hg19) ; chr2:g.178549175C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178549175C>G , CM000664.2:g.178549175C>G	GRCh38
NC_000002.11:g.179413902C>G , CM000664.1:g.179413902C>G	GRCh37
NC_000002.10:g.179122148C>G	NCBI36
NG_011618.3:g.286628G>C , LRG_391:g.286628G>C
NG_051363.1:g.31349C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.84747G>C (TTN)	ENSP00000343764.6:p.Glu28249Asp
ENST00000342175.11:c.65832G>C (TTN)	ENSP00000340554.6:p.Glu21944Asp
ENST00000359218.10:c.65631G>C (TTN)	ENSP00000352154.5:p.Glu21877Asp
ENST00000342175.10:c.65832G>C (TTN)	ENSP00000340554.6:p.Glu21944Asp
ENST00000342992.10:c.84747G>C (TTN)	ENSP00000343764.6:p.Glu28249Asp
ENST00000359218.9:c.65631G>C (TTN)	ENSP00000352154.5:p.Glu21877Asp
ENST00000460472.6:c.65256G>C (TTN)	ENSP00000434586.1:p.Glu21752Asp
ENST00000589042.5:c.92451G>C (TTN) MANE Select	ENSP00000467141.1:p.Glu30817Asp
ENST00000591111.5:c.87528G>C (TTN)	ENSP00000465570.1:p.Glu29176Asp
ENST00000615779.4:c.87528G>C (TTN)	ENSP00000483597.1:p.Glu29176Asp
NM_001256850.1:c.87528G>C (TTN)	NP_001243779.1:p.Glu29176Asp
NM_001267550.2:c.92451G>C (TTN) MANE Select	NP_001254479.2:p.Glu30817Asp
NM_003319.4:c.65256G>C (TTN)	NP_003310.4:p.Glu21752Asp
NM_133378.4:c.84747G>C (TTN)	NP_596869.4:p.Glu28249Asp
NM_133432.3:c.65631G>C (TTN)	NP_597676.3:p.Glu21877Asp
NM_133437.4:c.65832G>C (TTN)	NP_597681.4:p.Glu21944Asp
NR_038271.1:n.447-22125C>G (TTN-AS1)
NR_038272.1:n.2043+6814C>G (TTN-AS1)
XM_011511729.1:c.91548G>C (TTN)	XP_011510031.1:p.Glu30516Asp
XM_011511730.1:c.65442G>C (TTN)	XP_011510032.1:p.Glu21814Asp
XM_011511731.1:c.65301G>C (TTN)	XP_011510033.1:p.Glu21767Asp
XM_017004819.1:c.91344G>C (TTN)	XP_016860308.1:p.Glu30448Asp
XM_017004820.1:c.86742G>C (TTN)	XP_016860309.1:p.Glu28914Asp
XM_017004821.1:c.86739G>C (TTN)	XP_016860310.1:p.Glu28913Asp
XM_017004822.1:c.83781G>C (TTN)	XP_016860311.1:p.Glu27927Asp
XM_017004823.1:c.65397G>C (TTN)	XP_016860312.1:p.Glu21799Asp
XM_024453094.1:c.86892G>C (TTN)	XP_024308862.1:p.Glu28964Asp
XM_024453095.1:c.86889G>C (TTN)	XP_024308863.1:p.Glu28963Asp
XM_024453096.1:c.86322G>C (TTN)	XP_024308864.1:p.Glu28774Asp
XM_024453097.1:c.83664G>C (TTN)	XP_024308865.1:p.Glu27888Asp
XM_024453098.1:c.83583G>C (TTN)	XP_024308866.1:p.Glu27861Asp
XM_024453099.1:c.65346G>C (TTN)	XP_024308867.1:p.Glu21782Asp
XM_024453100.1:c.55200G>C (TTN)	XP_024308868.1:p.Glu18400Asp