Canonical Allele Identifier: CA349417066

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179398693C>G (hg19) ; chr2:g.178533966C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178533966C>G , CM000664.2:g.178533966C>G	GRCh38
NC_000002.11:g.179398693C>G , CM000664.1:g.179398693C>G	GRCh37
NC_000002.10:g.179106939C>G	NCBI36
NG_011618.3:g.301837G>C , LRG_391:g.301837G>C
NG_051363.1:g.16140C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.94945G>C (TTN)	ENSP00000343764.6:p.Glu31649Gln
ENST00000342175.11:c.76030G>C (TTN)	ENSP00000340554.6:p.Glu25344Gln
ENST00000359218.10:c.75829G>C (TTN)	ENSP00000352154.5:p.Glu25277Gln
ENST00000342175.10:c.76030G>C (TTN)	ENSP00000340554.6:p.Glu25344Gln
ENST00000342992.10:c.94945G>C (TTN)	ENSP00000343764.6:p.Glu31649Gln
ENST00000359218.9:c.75829G>C (TTN)	ENSP00000352154.5:p.Glu25277Gln
ENST00000460472.6:c.75454G>C (TTN)	ENSP00000434586.1:p.Glu25152Gln
ENST00000589042.5:c.102649G>C (TTN) MANE Select	ENSP00000467141.1:p.Glu34217Gln
ENST00000591111.5:c.97726G>C (TTN)	ENSP00000465570.1:p.Glu32576Gln
ENST00000615779.4:c.97726G>C (TTN)	ENSP00000483597.1:p.Glu32576Gln
NM_001256850.1:c.97726G>C (TTN)	NP_001243779.1:p.Glu32576Gln
NM_001267550.2:c.102649G>C (TTN) MANE Select	NP_001254479.2:p.Glu34217Gln
NM_003319.4:c.75454G>C (TTN)	NP_003310.4:p.Glu25152Gln
NM_133378.4:c.94945G>C (TTN)	NP_596869.4:p.Glu31649Gln
NM_133432.3:c.75829G>C (TTN)	NP_597676.3:p.Glu25277Gln
NM_133437.4:c.76030G>C (TTN)	NP_597681.4:p.Glu25344Gln
NR_038271.1:n.446+10330C>G (TTN-AS1)
NR_038272.1:n.220-1766C>G (TTN-AS1)
XM_011511729.1:c.101746G>C (TTN)	XP_011510031.1:p.Glu33916Gln
XM_011511730.1:c.75640G>C (TTN)	XP_011510032.1:p.Glu25214Gln
XM_011511731.1:c.75499G>C (TTN)	XP_011510033.1:p.Glu25167Gln
XM_017004819.1:c.101542G>C (TTN)	XP_016860308.1:p.Glu33848Gln
XM_017004820.1:c.96940G>C (TTN)	XP_016860309.1:p.Glu32314Gln
XM_017004821.1:c.96937G>C (TTN)	XP_016860310.1:p.Glu32313Gln
XM_017004822.1:c.93979G>C (TTN)	XP_016860311.1:p.Glu31327Gln
XM_017004823.1:c.75595G>C (TTN)	XP_016860312.1:p.Glu25199Gln
XM_024453094.1:c.97090G>C (TTN)	XP_024308862.1:p.Glu32364Gln
XM_024453095.1:c.97087G>C (TTN)	XP_024308863.1:p.Glu32363Gln
XM_024453096.1:c.96520G>C (TTN)	XP_024308864.1:p.Glu32174Gln
XM_024453097.1:c.93862G>C (TTN)	XP_024308865.1:p.Glu31288Gln
XM_024453098.1:c.93781G>C (TTN)	XP_024308866.1:p.Glu31261Gln
XM_024453099.1:c.75544G>C (TTN)	XP_024308867.1:p.Glu25182Gln
XM_024453100.1:c.65398G>C (TTN)	XP_024308868.1:p.Glu21800Gln