Canonical Allele Identifier: CA349446313

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179408063C>G (hg19) ; chr2:g.178543336C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543336C>G , CM000664.2:g.178543336C>G	GRCh38
NC_000002.11:g.179408063C>G , CM000664.1:g.179408063C>G	GRCh37
NC_000002.10:g.179116309C>G	NCBI36
NG_011618.3:g.292467G>C , LRG_391:g.292467G>C
NG_051363.1:g.25510C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88933G>C (TTN)	ENSP00000343764.6:p.Asp29645His
ENST00000342175.11:c.70018G>C (TTN)	ENSP00000340554.6:p.Asp23340His
ENST00000359218.10:c.69817G>C (TTN)	ENSP00000352154.5:p.Asp23273His
ENST00000342175.10:c.70018G>C (TTN)	ENSP00000340554.6:p.Asp23340His
ENST00000342992.10:c.88933G>C (TTN)	ENSP00000343764.6:p.Asp29645His
ENST00000359218.9:c.69817G>C (TTN)	ENSP00000352154.5:p.Asp23273His
ENST00000460472.6:c.69442G>C (TTN)	ENSP00000434586.1:p.Asp23148His
ENST00000589042.5:c.96637G>C (TTN) MANE Select	ENSP00000467141.1:p.Asp32213His
ENST00000591111.5:c.91714G>C (TTN)	ENSP00000465570.1:p.Asp30572His
ENST00000615779.4:c.91714G>C (TTN)	ENSP00000483597.1:p.Asp30572His
NM_001256850.1:c.91714G>C (TTN)	NP_001243779.1:p.Asp30572His
NM_001267550.2:c.96637G>C (TTN) MANE Select	NP_001254479.2:p.Asp32213His
NM_003319.4:c.69442G>C (TTN)	NP_003310.4:p.Asp23148His
NM_133378.4:c.88933G>C (TTN)	NP_596869.4:p.Asp29645His
NM_133432.3:c.69817G>C (TTN)	NP_597676.3:p.Asp23273His
NM_133437.4:c.70018G>C (TTN)	NP_597681.4:p.Asp23340His
NR_038271.1:n.446+19700C>G (TTN-AS1)
NR_038272.1:n.2043+975C>G (TTN-AS1)
XM_011511729.1:c.95734G>C (TTN)	XP_011510031.1:p.Asp31912His
XM_011511730.1:c.69628G>C (TTN)	XP_011510032.1:p.Asp23210His
XM_011511731.1:c.69487G>C (TTN)	XP_011510033.1:p.Asp23163His
XM_017004819.1:c.95530G>C (TTN)	XP_016860308.1:p.Asp31844His
XM_017004820.1:c.90928G>C (TTN)	XP_016860309.1:p.Asp30310His
XM_017004821.1:c.90925G>C (TTN)	XP_016860310.1:p.Asp30309His
XM_017004822.1:c.87967G>C (TTN)	XP_016860311.1:p.Asp29323His
XM_017004823.1:c.69583G>C (TTN)	XP_016860312.1:p.Asp23195His
XM_024453094.1:c.91078G>C (TTN)	XP_024308862.1:p.Asp30360His
XM_024453095.1:c.91075G>C (TTN)	XP_024308863.1:p.Asp30359His
XM_024453096.1:c.90508G>C (TTN)	XP_024308864.1:p.Asp30170His
XM_024453097.1:c.87850G>C (TTN)	XP_024308865.1:p.Asp29284His
XM_024453098.1:c.87769G>C (TTN)	XP_024308866.1:p.Asp29257His
XM_024453099.1:c.69532G>C (TTN)	XP_024308867.1:p.Asp23178His
XM_024453100.1:c.59386G>C (TTN)	XP_024308868.1:p.Asp19796His