Canonical Allele Identifier: CA349544081

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179424465T>G (hg19) ; chr2:g.178559738T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178559738T>G , CM000664.2:g.178559738T>G	GRCh38
NC_000002.11:g.179424465T>G , CM000664.1:g.179424465T>G	GRCh37
NC_000002.10:g.179132711T>G	NCBI36
NG_011618.3:g.276065A>C , LRG_391:g.276065A>C
NG_051363.1:g.41912T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.78690A>C (TTN)	ENSP00000343764.6:p.Arg26230Ser
ENST00000342175.11:c.59775A>C (TTN)	ENSP00000340554.6:p.Arg19925Ser
ENST00000359218.10:c.59574A>C (TTN)	ENSP00000352154.5:p.Arg19858Ser
ENST00000342175.10:c.59775A>C (TTN)	ENSP00000340554.6:p.Arg19925Ser
ENST00000342992.10:c.78690A>C (TTN)	ENSP00000343764.6:p.Arg26230Ser
ENST00000359218.9:c.59574A>C (TTN)	ENSP00000352154.5:p.Arg19858Ser
ENST00000460472.6:c.59199A>C (TTN)	ENSP00000434586.1:p.Arg19733Ser
ENST00000589042.5:c.86394A>C (TTN) MANE Select	ENSP00000467141.1:p.Arg28798Ser
ENST00000591111.5:c.81471A>C (TTN)	ENSP00000465570.1:p.Arg27157Ser
ENST00000615779.4:c.81471A>C (TTN)	ENSP00000483597.1:p.Arg27157Ser
NM_001256850.1:c.81471A>C (TTN)	NP_001243779.1:p.Arg27157Ser
NM_001267550.2:c.86394A>C (TTN) MANE Select	NP_001254479.2:p.Arg28798Ser
NM_003319.4:c.59199A>C (TTN)	NP_003310.4:p.Arg19733Ser
NM_133378.4:c.78690A>C (TTN)	NP_596869.4:p.Arg26230Ser
NM_133432.3:c.59574A>C (TTN)	NP_597676.3:p.Arg19858Ser
NM_133437.4:c.59775A>C (TTN)	NP_597681.4:p.Arg19925Ser
NR_038271.1:n.447-11562T>G (TTN-AS1)
NR_038272.1:n.2043+17377T>G (TTN-AS1)
XM_011511729.1:c.85491A>C (TTN)	XP_011510031.1:p.Arg28497Ser
XM_011511730.1:c.59385A>C (TTN)	XP_011510032.1:p.Arg19795Ser
XM_011511731.1:c.59244A>C (TTN)	XP_011510033.1:p.Arg19748Ser
XM_017004819.1:c.85287A>C (TTN)	XP_016860308.1:p.Arg28429Ser
XM_017004820.1:c.80685A>C (TTN)	XP_016860309.1:p.Arg26895Ser
XM_017004821.1:c.80682A>C (TTN)	XP_016860310.1:p.Arg26894Ser
XM_017004822.1:c.77724A>C (TTN)	XP_016860311.1:p.Arg25908Ser
XM_017004823.1:c.59340A>C (TTN)	XP_016860312.1:p.Arg19780Ser
XM_024453094.1:c.80835A>C (TTN)	XP_024308862.1:p.Arg26945Ser
XM_024453095.1:c.80832A>C (TTN)	XP_024308863.1:p.Arg26944Ser
XM_024453096.1:c.80265A>C (TTN)	XP_024308864.1:p.Arg26755Ser
XM_024453097.1:c.77607A>C (TTN)	XP_024308865.1:p.Arg25869Ser
XM_024453098.1:c.77526A>C (TTN)	XP_024308866.1:p.Arg25842Ser
XM_024453099.1:c.59289A>C (TTN)	XP_024308867.1:p.Arg19763Ser
XM_024453100.1:c.49143A>C (TTN)	XP_024308868.1:p.Arg16381Ser