Canonical Allele Identifier: CA349512828

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179417406T>G (hg19) ; chr2:g.178552679T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178552679T>G , CM000664.2:g.178552679T>G	GRCh38
NC_000002.11:g.179417406T>G , CM000664.1:g.179417406T>G	GRCh37
NC_000002.10:g.179125652T>G	NCBI36
NG_011618.3:g.283124A>C , LRG_391:g.283124A>C
NG_051363.1:g.34853T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.82517A>C (TTN)	ENSP00000343764.6:p.Glu27506Ala
ENST00000342175.11:c.63602A>C (TTN)	ENSP00000340554.6:p.Glu21201Ala
ENST00000359218.10:c.63401A>C (TTN)	ENSP00000352154.5:p.Glu21134Ala
ENST00000342175.10:c.63602A>C (TTN)	ENSP00000340554.6:p.Glu21201Ala
ENST00000342992.10:c.82517A>C (TTN)	ENSP00000343764.6:p.Glu27506Ala
ENST00000359218.9:c.63401A>C (TTN)	ENSP00000352154.5:p.Glu21134Ala
ENST00000460472.6:c.63026A>C (TTN)	ENSP00000434586.1:p.Glu21009Ala
ENST00000589042.5:c.90221A>C (TTN) MANE Select	ENSP00000467141.1:p.Glu30074Ala
ENST00000591111.5:c.85298A>C (TTN)	ENSP00000465570.1:p.Glu28433Ala
ENST00000615779.4:c.85298A>C (TTN)	ENSP00000483597.1:p.Glu28433Ala
NM_001256850.1:c.85298A>C (TTN)	NP_001243779.1:p.Glu28433Ala
NM_001267550.2:c.90221A>C (TTN) MANE Select	NP_001254479.2:p.Glu30074Ala
NM_003319.4:c.63026A>C (TTN)	NP_003310.4:p.Glu21009Ala
NM_133378.4:c.82517A>C (TTN)	NP_596869.4:p.Glu27506Ala
NM_133432.3:c.63401A>C (TTN)	NP_597676.3:p.Glu21134Ala
NM_133437.4:c.63602A>C (TTN)	NP_597681.4:p.Glu21201Ala
NR_038271.1:n.447-18621T>G (TTN-AS1)
NR_038272.1:n.2043+10318T>G (TTN-AS1)
XM_011511729.1:c.89318A>C (TTN)	XP_011510031.1:p.Glu29773Ala
XM_011511730.1:c.63212A>C (TTN)	XP_011510032.1:p.Glu21071Ala
XM_011511731.1:c.63071A>C (TTN)	XP_011510033.1:p.Glu21024Ala
XM_017004819.1:c.89114A>C (TTN)	XP_016860308.1:p.Glu29705Ala
XM_017004820.1:c.84512A>C (TTN)	XP_016860309.1:p.Glu28171Ala
XM_017004821.1:c.84509A>C (TTN)	XP_016860310.1:p.Glu28170Ala
XM_017004822.1:c.81551A>C (TTN)	XP_016860311.1:p.Glu27184Ala
XM_017004823.1:c.63167A>C (TTN)	XP_016860312.1:p.Glu21056Ala
XM_024453094.1:c.84662A>C (TTN)	XP_024308862.1:p.Glu28221Ala
XM_024453095.1:c.84659A>C (TTN)	XP_024308863.1:p.Glu28220Ala
XM_024453096.1:c.84092A>C (TTN)	XP_024308864.1:p.Glu28031Ala
XM_024453097.1:c.81434A>C (TTN)	XP_024308865.1:p.Glu27145Ala
XM_024453098.1:c.81353A>C (TTN)	XP_024308866.1:p.Glu27118Ala
XM_024453099.1:c.63116A>C (TTN)	XP_024308867.1:p.Glu21039Ala
XM_024453100.1:c.52970A>C (TTN)	XP_024308868.1:p.Glu17657Ala