Canonical Allele Identifier: CA349456206

Gene: TTN TTN-AS1

Linked Data

• COSMIC: COSM5707882 ; COSM5707883 ; COSM5707884 ; COSM5707885
• MyVariant Identifiers: chr2:g.179409060T>C (hg19) ; chr2:g.178544333T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544333T>C , CM000664.2:g.178544333T>C	GRCh38
NC_000002.11:g.179409060T>C , CM000664.1:g.179409060T>C	GRCh37
NC_000002.10:g.179117306T>C	NCBI36
NG_011618.3:g.291470A>G , LRG_391:g.291470A>G
NG_051363.1:g.26507T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88192A>G (TTN)	ENSP00000343764.6:p.Arg29398Gly
ENST00000342175.11:c.69277A>G (TTN)	ENSP00000340554.6:p.Arg23093Gly
ENST00000359218.10:c.69076A>G (TTN)	ENSP00000352154.5:p.Arg23026Gly
ENST00000342175.10:c.69277A>G (TTN)	ENSP00000340554.6:p.Arg23093Gly
ENST00000342992.10:c.88192A>G (TTN)	ENSP00000343764.6:p.Arg29398Gly
ENST00000359218.9:c.69076A>G (TTN)	ENSP00000352154.5:p.Arg23026Gly
ENST00000460472.6:c.68701A>G (TTN)	ENSP00000434586.1:p.Arg22901Gly
ENST00000589042.5:c.95896A>G (TTN) MANE Select	ENSP00000467141.1:p.Arg31966Gly
ENST00000591111.5:c.90973A>G (TTN)	ENSP00000465570.1:p.Arg30325Gly
ENST00000615779.4:c.90973A>G (TTN)	ENSP00000483597.1:p.Arg30325Gly
NM_001256850.1:c.90973A>G (TTN)	NP_001243779.1:p.Arg30325Gly
NM_001267550.2:c.95896A>G (TTN) MANE Select	NP_001254479.2:p.Arg31966Gly
NM_003319.4:c.68701A>G (TTN)	NP_003310.4:p.Arg22901Gly
NM_133378.4:c.88192A>G (TTN)	NP_596869.4:p.Arg29398Gly
NM_133432.3:c.69076A>G (TTN)	NP_597676.3:p.Arg23026Gly
NM_133437.4:c.69277A>G (TTN)	NP_597681.4:p.Arg23093Gly
NR_038271.1:n.446+20697T>C (TTN-AS1)
NR_038272.1:n.2043+1972T>C (TTN-AS1)
XM_011511729.1:c.94993A>G (TTN)	XP_011510031.1:p.Arg31665Gly
XM_011511730.1:c.68887A>G (TTN)	XP_011510032.1:p.Arg22963Gly
XM_011511731.1:c.68746A>G (TTN)	XP_011510033.1:p.Arg22916Gly
XM_017004819.1:c.94789A>G (TTN)	XP_016860308.1:p.Arg31597Gly
XM_017004820.1:c.90187A>G (TTN)	XP_016860309.1:p.Arg30063Gly
XM_017004821.1:c.90184A>G (TTN)	XP_016860310.1:p.Arg30062Gly
XM_017004822.1:c.87226A>G (TTN)	XP_016860311.1:p.Arg29076Gly
XM_017004823.1:c.68842A>G (TTN)	XP_016860312.1:p.Arg22948Gly
XM_024453094.1:c.90337A>G (TTN)	XP_024308862.1:p.Arg30113Gly
XM_024453095.1:c.90334A>G (TTN)	XP_024308863.1:p.Arg30112Gly
XM_024453096.1:c.89767A>G (TTN)	XP_024308864.1:p.Arg29923Gly
XM_024453097.1:c.87109A>G (TTN)	XP_024308865.1:p.Arg29037Gly
XM_024453098.1:c.87028A>G (TTN)	XP_024308866.1:p.Arg29010Gly
XM_024453099.1:c.68791A>G (TTN)	XP_024308867.1:p.Arg22931Gly
XM_024453100.1:c.58645A>G (TTN)	XP_024308868.1:p.Arg19549Gly