Canonical Allele Identifier: CA349456189

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179409058T>G (hg19) ; chr2:g.178544331T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544331T>G , CM000664.2:g.178544331T>G	GRCh38
NC_000002.11:g.179409058T>G , CM000664.1:g.179409058T>G	GRCh37
NC_000002.10:g.179117304T>G	NCBI36
NG_011618.3:g.291472A>C , LRG_391:g.291472A>C
NG_051363.1:g.26505T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88194A>C (TTN)	ENSP00000343764.6:p.Arg29398Ser
ENST00000342175.11:c.69279A>C (TTN)	ENSP00000340554.6:p.Arg23093Ser
ENST00000359218.10:c.69078A>C (TTN)	ENSP00000352154.5:p.Arg23026Ser
ENST00000342175.10:c.69279A>C (TTN)	ENSP00000340554.6:p.Arg23093Ser
ENST00000342992.10:c.88194A>C (TTN)	ENSP00000343764.6:p.Arg29398Ser
ENST00000359218.9:c.69078A>C (TTN)	ENSP00000352154.5:p.Arg23026Ser
ENST00000460472.6:c.68703A>C (TTN)	ENSP00000434586.1:p.Arg22901Ser
ENST00000589042.5:c.95898A>C (TTN) MANE Select	ENSP00000467141.1:p.Arg31966Ser
ENST00000591111.5:c.90975A>C (TTN)	ENSP00000465570.1:p.Arg30325Ser
ENST00000615779.4:c.90975A>C (TTN)	ENSP00000483597.1:p.Arg30325Ser
NM_001256850.1:c.90975A>C (TTN)	NP_001243779.1:p.Arg30325Ser
NM_001267550.2:c.95898A>C (TTN) MANE Select	NP_001254479.2:p.Arg31966Ser
NM_003319.4:c.68703A>C (TTN)	NP_003310.4:p.Arg22901Ser
NM_133378.4:c.88194A>C (TTN)	NP_596869.4:p.Arg29398Ser
NM_133432.3:c.69078A>C (TTN)	NP_597676.3:p.Arg23026Ser
NM_133437.4:c.69279A>C (TTN)	NP_597681.4:p.Arg23093Ser
NR_038271.1:n.446+20695T>G (TTN-AS1)
NR_038272.1:n.2043+1970T>G (TTN-AS1)
XM_011511729.1:c.94995A>C (TTN)	XP_011510031.1:p.Arg31665Ser
XM_011511730.1:c.68889A>C (TTN)	XP_011510032.1:p.Arg22963Ser
XM_011511731.1:c.68748A>C (TTN)	XP_011510033.1:p.Arg22916Ser
XM_017004819.1:c.94791A>C (TTN)	XP_016860308.1:p.Arg31597Ser
XM_017004820.1:c.90189A>C (TTN)	XP_016860309.1:p.Arg30063Ser
XM_017004821.1:c.90186A>C (TTN)	XP_016860310.1:p.Arg30062Ser
XM_017004822.1:c.87228A>C (TTN)	XP_016860311.1:p.Arg29076Ser
XM_017004823.1:c.68844A>C (TTN)	XP_016860312.1:p.Arg22948Ser
XM_024453094.1:c.90339A>C (TTN)	XP_024308862.1:p.Arg30113Ser
XM_024453095.1:c.90336A>C (TTN)	XP_024308863.1:p.Arg30112Ser
XM_024453096.1:c.89769A>C (TTN)	XP_024308864.1:p.Arg29923Ser
XM_024453097.1:c.87111A>C (TTN)	XP_024308865.1:p.Arg29037Ser
XM_024453098.1:c.87030A>C (TTN)	XP_024308866.1:p.Arg29010Ser
XM_024453099.1:c.68793A>C (TTN)	XP_024308867.1:p.Arg22931Ser
XM_024453100.1:c.58647A>C (TTN)	XP_024308868.1:p.Arg19549Ser