Canonical Allele Identifier: CA349450662

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179408597C>T (hg19) ; chr2:g.178543870C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543870C>T , CM000664.2:g.178543870C>T	GRCh38
NC_000002.11:g.179408597C>T , CM000664.1:g.179408597C>T	GRCh37
NC_000002.10:g.179116843C>T	NCBI36
NG_011618.3:g.291933G>A , LRG_391:g.291933G>A
NG_051363.1:g.26044C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88570G>A (TTN)	ENSP00000343764.6:p.Gly29524Ser
ENST00000342175.11:c.69655G>A (TTN)	ENSP00000340554.6:p.Gly23219Ser
ENST00000359218.10:c.69454G>A (TTN)	ENSP00000352154.5:p.Gly23152Ser
ENST00000342175.10:c.69655G>A (TTN)	ENSP00000340554.6:p.Gly23219Ser
ENST00000342992.10:c.88570G>A (TTN)	ENSP00000343764.6:p.Gly29524Ser
ENST00000359218.9:c.69454G>A (TTN)	ENSP00000352154.5:p.Gly23152Ser
ENST00000460472.6:c.69079G>A (TTN)	ENSP00000434586.1:p.Gly23027Ser
ENST00000589042.5:c.96274G>A (TTN) MANE Select	ENSP00000467141.1:p.Gly32092Ser
ENST00000591111.5:c.91351G>A (TTN)	ENSP00000465570.1:p.Gly30451Ser
ENST00000615779.4:c.91351G>A (TTN)	ENSP00000483597.1:p.Gly30451Ser
NM_001256850.1:c.91351G>A (TTN)	NP_001243779.1:p.Gly30451Ser
NM_001267550.2:c.96274G>A (TTN) MANE Select	NP_001254479.2:p.Gly32092Ser
NM_003319.4:c.69079G>A (TTN)	NP_003310.4:p.Gly23027Ser
NM_133378.4:c.88570G>A (TTN)	NP_596869.4:p.Gly29524Ser
NM_133432.3:c.69454G>A (TTN)	NP_597676.3:p.Gly23152Ser
NM_133437.4:c.69655G>A (TTN)	NP_597681.4:p.Gly23219Ser
NR_038271.1:n.446+20234C>T (TTN-AS1)
NR_038272.1:n.2043+1509C>T (TTN-AS1)
XM_011511729.1:c.95371G>A (TTN)	XP_011510031.1:p.Gly31791Ser
XM_011511730.1:c.69265G>A (TTN)	XP_011510032.1:p.Gly23089Ser
XM_011511731.1:c.69124G>A (TTN)	XP_011510033.1:p.Gly23042Ser
XM_017004819.1:c.95167G>A (TTN)	XP_016860308.1:p.Gly31723Ser
XM_017004820.1:c.90565G>A (TTN)	XP_016860309.1:p.Gly30189Ser
XM_017004821.1:c.90562G>A (TTN)	XP_016860310.1:p.Gly30188Ser
XM_017004822.1:c.87604G>A (TTN)	XP_016860311.1:p.Gly29202Ser
XM_017004823.1:c.69220G>A (TTN)	XP_016860312.1:p.Gly23074Ser
XM_024453094.1:c.90715G>A (TTN)	XP_024308862.1:p.Gly30239Ser
XM_024453095.1:c.90712G>A (TTN)	XP_024308863.1:p.Gly30238Ser
XM_024453096.1:c.90145G>A (TTN)	XP_024308864.1:p.Gly30049Ser
XM_024453097.1:c.87487G>A (TTN)	XP_024308865.1:p.Gly29163Ser
XM_024453098.1:c.87406G>A (TTN)	XP_024308866.1:p.Gly29136Ser
XM_024453099.1:c.69169G>A (TTN)	XP_024308867.1:p.Gly23057Ser
XM_024453100.1:c.59023G>A (TTN)	XP_024308868.1:p.Gly19675Ser