Canonical Allele Identifier: CA430267392

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179457958T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178593231T>C , CM000664.2:g.178593231T>C	GRCh38
NC_000002.11:g.179457958T>C , CM000664.1:g.179457958T>C	GRCh37
NC_000002.10:g.179166204T>C	NCBI36
NG_011618.3:g.242572A>G , LRG_391:g.242572A>G
NG_051363.1:g.75405T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.51273A>G (TTN)	ENSP00000343764.6:p.Glu17091=
ENST00000342175.11:c.32358A>G (TTN)	ENSP00000340554.6:p.Glu10786=
ENST00000359218.10:c.32157A>G (TTN)	ENSP00000352154.5:p.Glu10719=
ENST00000342175.10:c.32358A>G (TTN)	ENSP00000340554.6:p.Glu10786=
ENST00000342992.10:c.51273A>G (TTN)	ENSP00000343764.6:p.Glu17091=
ENST00000359218.9:c.32157A>G (TTN)	ENSP00000352154.5:p.Glu10719=
ENST00000460472.6:c.31782A>G (TTN)	ENSP00000434586.1:p.Glu10594=
ENST00000589042.5:c.58977A>G (TTN) MANE Select	ENSP00000467141.1:p.Glu19659=
ENST00000591111.5:c.54054A>G (TTN)	ENSP00000465570.1:p.Glu18018=
ENST00000615779.4:c.54054A>G (TTN)	ENSP00000483597.1:p.Glu18018=
NM_001256850.1:c.54054A>G (TTN)	NP_001243779.1:p.Glu18018=
NM_001267550.2:c.58977A>G (TTN) MANE Select	NP_001254479.2:p.Glu19659=
NM_003319.4:c.31782A>G (TTN)	NP_003310.4:p.Glu10594=
NM_133378.4:c.51273A>G (TTN)	NP_596869.4:p.Glu17091=
NM_133432.3:c.32157A>G (TTN)	NP_597676.3:p.Glu10719=
NM_133437.4:c.32358A>G (TTN)	NP_597681.4:p.Glu10786=
NR_038271.1:n.597-4365T>C (TTN-AS1)
NR_038272.1:n.3364+1917T>C (TTN-AS1)
XM_011511729.1:c.58074A>G (TTN)	XP_011510031.1:p.Glu19358=
XM_011511730.1:c.31968A>G (TTN)	XP_011510032.1:p.Glu10656=
XM_011511731.1:c.31827A>G (TTN)	XP_011510033.1:p.Glu10609=
XM_017004819.1:c.57870A>G (TTN)	XP_016860308.1:p.Glu19290=
XM_017004820.1:c.53268A>G (TTN)	XP_016860309.1:p.Glu17756=
XM_017004821.1:c.53265A>G (TTN)	XP_016860310.1:p.Glu17755=
XM_017004822.1:c.50307A>G (TTN)	XP_016860311.1:p.Glu16769=
XM_017004823.1:c.31923A>G (TTN)	XP_016860312.1:p.Glu10641=
XM_024453094.1:c.53418A>G (TTN)	XP_024308862.1:p.Glu17806=
XM_024453095.1:c.53415A>G (TTN)	XP_024308863.1:p.Glu17805=
XM_024453096.1:c.52848A>G (TTN)	XP_024308864.1:p.Glu17616=
XM_024453097.1:c.50190A>G (TTN)	XP_024308865.1:p.Glu16730=
XM_024453098.1:c.50109A>G (TTN)	XP_024308866.1:p.Glu16703=
XM_024453099.1:c.31872A>G (TTN)	XP_024308867.1:p.Glu10624=
XM_024453100.1:c.21726A>G (TTN)	XP_024308868.1:p.Glu7242=