Canonical Allele Identifier: CA349450909

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179408615C>G (hg19) ; chr2:g.178543888C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543888C>G , CM000664.2:g.178543888C>G	GRCh38
NC_000002.11:g.179408615C>G , CM000664.1:g.179408615C>G	GRCh37
NC_000002.10:g.179116861C>G	NCBI36
NG_011618.3:g.291915G>C , LRG_391:g.291915G>C
NG_051363.1:g.26062C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88552G>C (TTN)	ENSP00000343764.6:p.Glu29518Gln
ENST00000342175.11:c.69637G>C (TTN)	ENSP00000340554.6:p.Glu23213Gln
ENST00000359218.10:c.69436G>C (TTN)	ENSP00000352154.5:p.Glu23146Gln
ENST00000342175.10:c.69637G>C (TTN)	ENSP00000340554.6:p.Glu23213Gln
ENST00000342992.10:c.88552G>C (TTN)	ENSP00000343764.6:p.Glu29518Gln
ENST00000359218.9:c.69436G>C (TTN)	ENSP00000352154.5:p.Glu23146Gln
ENST00000460472.6:c.69061G>C (TTN)	ENSP00000434586.1:p.Glu23021Gln
ENST00000589042.5:c.96256G>C (TTN) MANE Select	ENSP00000467141.1:p.Glu32086Gln
ENST00000591111.5:c.91333G>C (TTN)	ENSP00000465570.1:p.Glu30445Gln
ENST00000615779.4:c.91333G>C (TTN)	ENSP00000483597.1:p.Glu30445Gln
NM_001256850.1:c.91333G>C (TTN)	NP_001243779.1:p.Glu30445Gln
NM_001267550.2:c.96256G>C (TTN) MANE Select	NP_001254479.2:p.Glu32086Gln
NM_003319.4:c.69061G>C (TTN)	NP_003310.4:p.Glu23021Gln
NM_133378.4:c.88552G>C (TTN)	NP_596869.4:p.Glu29518Gln
NM_133432.3:c.69436G>C (TTN)	NP_597676.3:p.Glu23146Gln
NM_133437.4:c.69637G>C (TTN)	NP_597681.4:p.Glu23213Gln
NR_038271.1:n.446+20252C>G (TTN-AS1)
NR_038272.1:n.2043+1527C>G (TTN-AS1)
XM_011511729.1:c.95353G>C (TTN)	XP_011510031.1:p.Glu31785Gln
XM_011511730.1:c.69247G>C (TTN)	XP_011510032.1:p.Glu23083Gln
XM_011511731.1:c.69106G>C (TTN)	XP_011510033.1:p.Glu23036Gln
XM_017004819.1:c.95149G>C (TTN)	XP_016860308.1:p.Glu31717Gln
XM_017004820.1:c.90547G>C (TTN)	XP_016860309.1:p.Glu30183Gln
XM_017004821.1:c.90544G>C (TTN)	XP_016860310.1:p.Glu30182Gln
XM_017004822.1:c.87586G>C (TTN)	XP_016860311.1:p.Glu29196Gln
XM_017004823.1:c.69202G>C (TTN)	XP_016860312.1:p.Glu23068Gln
XM_024453094.1:c.90697G>C (TTN)	XP_024308862.1:p.Glu30233Gln
XM_024453095.1:c.90694G>C (TTN)	XP_024308863.1:p.Glu30232Gln
XM_024453096.1:c.90127G>C (TTN)	XP_024308864.1:p.Glu30043Gln
XM_024453097.1:c.87469G>C (TTN)	XP_024308865.1:p.Glu29157Gln
XM_024453098.1:c.87388G>C (TTN)	XP_024308866.1:p.Glu29130Gln
XM_024453099.1:c.69151G>C (TTN)	XP_024308867.1:p.Glu23051Gln
XM_024453100.1:c.59005G>C (TTN)	XP_024308868.1:p.Glu19669Gln