Canonical Allele Identifier: CA430274427

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179482768C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178618041C>G , CM000664.2:g.178618041C>G	GRCh38
NC_000002.11:g.179482768C>G , CM000664.1:g.179482768C>G	GRCh37
NC_000002.10:g.179191013C>G	NCBI36
NG_011618.3:g.217762G>C , LRG_391:g.217762G>C
NG_051363.1:g.100215C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.39606G>C (TTN)	ENSP00000343764.6:p.Val13202=
ENST00000342175.11:c.20691G>C (TTN)	ENSP00000340554.6:p.Val6897=
ENST00000359218.10:c.20490G>C (TTN)	ENSP00000352154.5:p.Val6830=
ENST00000342175.10:c.20691G>C (TTN)	ENSP00000340554.6:p.Val6897=
ENST00000342992.10:c.39606G>C (TTN)	ENSP00000343764.6:p.Val13202=
ENST00000359218.9:c.20490G>C (TTN)	ENSP00000352154.5:p.Val6830=
ENST00000460472.6:c.20115G>C (TTN)	ENSP00000434586.1:p.Val6705=
ENST00000589042.5:c.47310G>C (TTN) MANE Select	ENSP00000467141.1:p.Val15770=
ENST00000591111.5:c.42387G>C (TTN)	ENSP00000465570.1:p.Val14129=
ENST00000615779.4:c.42387G>C (TTN)	ENSP00000483597.1:p.Val14129=
NM_001256850.1:c.42387G>C (TTN)	NP_001243779.1:p.Val14129=
NM_001267550.2:c.47310G>C (TTN) MANE Select	NP_001254479.2:p.Val15770=
NM_003319.4:c.20115G>C (TTN)	NP_003310.4:p.Val6705=
NM_133378.4:c.39606G>C (TTN)	NP_596869.4:p.Val13202=
NM_133432.3:c.20490G>C (TTN)	NP_597676.3:p.Val6830=
NM_133437.4:c.20691G>C (TTN)	NP_597681.4:p.Val6897=
NR_038271.1:n.1605-1712C>G (TTN-AS1)
XM_011511729.1:c.46407G>C (TTN)	XP_011510031.1:p.Val15469=
XM_011511730.1:c.20301G>C (TTN)	XP_011510032.1:p.Val6767=
XM_011511731.1:c.20160G>C (TTN)	XP_011510033.1:p.Val6720=
XM_017004819.1:c.46203G>C (TTN)	XP_016860308.1:p.Val15401=
XM_017004820.1:c.41601G>C (TTN)	XP_016860309.1:p.Val13867=
XM_017004821.1:c.41598G>C (TTN)	XP_016860310.1:p.Val13866=
XM_017004822.1:c.38640G>C (TTN)	XP_016860311.1:p.Val12880=
XM_017004823.1:c.20256G>C (TTN)	XP_016860312.1:p.Val6752=
XM_024453094.1:c.41751G>C (TTN)	XP_024308862.1:p.Val13917=
XM_024453095.1:c.41748G>C (TTN)	XP_024308863.1:p.Val13916=
XM_024453096.1:c.41181G>C (TTN)	XP_024308864.1:p.Val13727=
XM_024453097.1:c.38523G>C (TTN)	XP_024308865.1:p.Val12841=
XM_024453098.1:c.38442G>C (TTN)	XP_024308866.1:p.Val12814=
XM_024453099.1:c.20205G>C (TTN)	XP_024308867.1:p.Val6735=
XM_024453100.1:c.10059G>C (TTN)	XP_024308868.1:p.Val3353=