Canonical Allele Identifier: CA349618743

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179482934C>G (hg19) ; chr2:g.178618207C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178618207C>G , CM000664.2:g.178618207C>G	GRCh38
NC_000002.11:g.179482934C>G , CM000664.1:g.179482934C>G	GRCh37
NC_000002.10:g.179191179C>G	NCBI36
NG_011618.3:g.217596G>C , LRG_391:g.217596G>C
NG_051363.1:g.100381C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.39547G>C (TTN)	ENSP00000343764.6:p.Glu13183Gln
ENST00000342175.11:c.20632G>C (TTN)	ENSP00000340554.6:p.Glu6878Gln
ENST00000359218.10:c.20431G>C (TTN)	ENSP00000352154.5:p.Glu6811Gln
ENST00000342175.10:c.20632G>C (TTN)	ENSP00000340554.6:p.Glu6878Gln
ENST00000342992.10:c.39547G>C (TTN)	ENSP00000343764.6:p.Glu13183Gln
ENST00000359218.9:c.20431G>C (TTN)	ENSP00000352154.5:p.Glu6811Gln
ENST00000460472.6:c.20056G>C (TTN)	ENSP00000434586.1:p.Glu6686Gln
ENST00000589042.5:c.47251G>C (TTN) MANE Select	ENSP00000467141.1:p.Glu15751Gln
ENST00000591111.5:c.42328G>C (TTN)	ENSP00000465570.1:p.Glu14110Gln
ENST00000615779.4:c.42328G>C (TTN)	ENSP00000483597.1:p.Glu14110Gln
NM_001256850.1:c.42328G>C (TTN)	NP_001243779.1:p.Glu14110Gln
NM_001267550.2:c.47251G>C (TTN) MANE Select	NP_001254479.2:p.Glu15751Gln
NM_003319.4:c.20056G>C (TTN)	NP_003310.4:p.Glu6686Gln
NM_133378.4:c.39547G>C (TTN)	NP_596869.4:p.Glu13183Gln
NM_133432.3:c.20431G>C (TTN)	NP_597676.3:p.Glu6811Gln
NM_133437.4:c.20632G>C (TTN)	NP_597681.4:p.Glu6878Gln
NR_038271.1:n.1605-1546C>G (TTN-AS1)
XM_011511729.1:c.46348G>C (TTN)	XP_011510031.1:p.Glu15450Gln
XM_011511730.1:c.20242G>C (TTN)	XP_011510032.1:p.Glu6748Gln
XM_011511731.1:c.20101G>C (TTN)	XP_011510033.1:p.Glu6701Gln
XM_017004819.1:c.46144G>C (TTN)	XP_016860308.1:p.Glu15382Gln
XM_017004820.1:c.41542G>C (TTN)	XP_016860309.1:p.Glu13848Gln
XM_017004821.1:c.41539G>C (TTN)	XP_016860310.1:p.Glu13847Gln
XM_017004822.1:c.38581G>C (TTN)	XP_016860311.1:p.Glu12861Gln
XM_017004823.1:c.20197G>C (TTN)	XP_016860312.1:p.Glu6733Gln
XM_024453094.1:c.41692G>C (TTN)	XP_024308862.1:p.Glu13898Gln
XM_024453095.1:c.41689G>C (TTN)	XP_024308863.1:p.Glu13897Gln
XM_024453096.1:c.41122G>C (TTN)	XP_024308864.1:p.Glu13708Gln
XM_024453097.1:c.38464G>C (TTN)	XP_024308865.1:p.Glu12822Gln
XM_024453098.1:c.38383G>C (TTN)	XP_024308866.1:p.Glu12795Gln
XM_024453099.1:c.20146G>C (TTN)	XP_024308867.1:p.Glu6716Gln
XM_024453100.1:c.10000G>C (TTN)	XP_024308868.1:p.Glu3334Gln