Canonical Allele Identifier: CA430274492

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179482783T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178618056T>G , CM000664.2:g.178618056T>G	GRCh38
NC_000002.11:g.179482783T>G , CM000664.1:g.179482783T>G	GRCh37
NC_000002.10:g.179191028T>G	NCBI36
NG_011618.3:g.217747A>C , LRG_391:g.217747A>C
NG_051363.1:g.100230T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.39591A>C (TTN)	ENSP00000343764.6:p.Val13197=
ENST00000342175.11:c.20676A>C (TTN)	ENSP00000340554.6:p.Val6892=
ENST00000359218.10:c.20475A>C (TTN)	ENSP00000352154.5:p.Val6825=
ENST00000342175.10:c.20676A>C (TTN)	ENSP00000340554.6:p.Val6892=
ENST00000342992.10:c.39591A>C (TTN)	ENSP00000343764.6:p.Val13197=
ENST00000359218.9:c.20475A>C (TTN)	ENSP00000352154.5:p.Val6825=
ENST00000460472.6:c.20100A>C (TTN)	ENSP00000434586.1:p.Val6700=
ENST00000589042.5:c.47295A>C (TTN) MANE Select	ENSP00000467141.1:p.Val15765=
ENST00000591111.5:c.42372A>C (TTN)	ENSP00000465570.1:p.Val14124=
ENST00000615779.4:c.42372A>C (TTN)	ENSP00000483597.1:p.Val14124=
NM_001256850.1:c.42372A>C (TTN)	NP_001243779.1:p.Val14124=
NM_001267550.2:c.47295A>C (TTN) MANE Select	NP_001254479.2:p.Val15765=
NM_003319.4:c.20100A>C (TTN)	NP_003310.4:p.Val6700=
NM_133378.4:c.39591A>C (TTN)	NP_596869.4:p.Val13197=
NM_133432.3:c.20475A>C (TTN)	NP_597676.3:p.Val6825=
NM_133437.4:c.20676A>C (TTN)	NP_597681.4:p.Val6892=
NR_038271.1:n.1605-1697T>G (TTN-AS1)
XM_011511729.1:c.46392A>C (TTN)	XP_011510031.1:p.Val15464=
XM_011511730.1:c.20286A>C (TTN)	XP_011510032.1:p.Val6762=
XM_011511731.1:c.20145A>C (TTN)	XP_011510033.1:p.Val6715=
XM_017004819.1:c.46188A>C (TTN)	XP_016860308.1:p.Val15396=
XM_017004820.1:c.41586A>C (TTN)	XP_016860309.1:p.Val13862=
XM_017004821.1:c.41583A>C (TTN)	XP_016860310.1:p.Val13861=
XM_017004822.1:c.38625A>C (TTN)	XP_016860311.1:p.Val12875=
XM_017004823.1:c.20241A>C (TTN)	XP_016860312.1:p.Val6747=
XM_024453094.1:c.41736A>C (TTN)	XP_024308862.1:p.Val13912=
XM_024453095.1:c.41733A>C (TTN)	XP_024308863.1:p.Val13911=
XM_024453096.1:c.41166A>C (TTN)	XP_024308864.1:p.Val13722=
XM_024453097.1:c.38508A>C (TTN)	XP_024308865.1:p.Val12836=
XM_024453098.1:c.38427A>C (TTN)	XP_024308866.1:p.Val12809=
XM_024453099.1:c.20190A>C (TTN)	XP_024308867.1:p.Val6730=
XM_024453100.1:c.10044A>C (TTN)	XP_024308868.1:p.Val3348=