Canonical Allele Identifier: CA349611361

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179433559T>G (hg19) ; chr2:g.178568832T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178568832T>G , CM000664.2:g.178568832T>G	GRCh38
NC_000002.11:g.179433559T>G , CM000664.1:g.179433559T>G	GRCh37
NC_000002.10:g.179141805T>G	NCBI36
NG_011618.3:g.266971A>C , LRG_391:g.266971A>C
NG_051363.1:g.51006T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.69596A>C (TTN)	ENSP00000343764.6:p.Tyr23199Ser
ENST00000342175.11:c.50681A>C (TTN)	ENSP00000340554.6:p.Tyr16894Ser
ENST00000359218.10:c.50480A>C (TTN)	ENSP00000352154.5:p.Tyr16827Ser
ENST00000342175.10:c.50681A>C (TTN)	ENSP00000340554.6:p.Tyr16894Ser
ENST00000342992.10:c.69596A>C (TTN)	ENSP00000343764.6:p.Tyr23199Ser
ENST00000359218.9:c.50480A>C (TTN)	ENSP00000352154.5:p.Tyr16827Ser
ENST00000460472.6:c.50105A>C (TTN)	ENSP00000434586.1:p.Tyr16702Ser
ENST00000589042.5:c.77300A>C (TTN) MANE Select	ENSP00000467141.1:p.Tyr25767Ser
ENST00000591111.5:c.72377A>C (TTN)	ENSP00000465570.1:p.Tyr24126Ser
ENST00000615779.4:c.72377A>C (TTN)	ENSP00000483597.1:p.Tyr24126Ser
NM_001256850.1:c.72377A>C (TTN)	NP_001243779.1:p.Tyr24126Ser
NM_001267550.2:c.77300A>C (TTN) MANE Select	NP_001254479.2:p.Tyr25767Ser
NM_003319.4:c.50105A>C (TTN)	NP_003310.4:p.Tyr16702Ser
NM_133378.4:c.69596A>C (TTN)	NP_596869.4:p.Tyr23199Ser
NM_133432.3:c.50480A>C (TTN)	NP_597676.3:p.Tyr16827Ser
NM_133437.4:c.50681A>C (TTN)	NP_597681.4:p.Tyr16894Ser
NR_038271.1:n.447-2468T>G (TTN-AS1)
NR_038272.1:n.2044-13740T>G (TTN-AS1)
XM_011511729.1:c.76397A>C (TTN)	XP_011510031.1:p.Tyr25466Ser
XM_011511730.1:c.50291A>C (TTN)	XP_011510032.1:p.Tyr16764Ser
XM_011511731.1:c.50150A>C (TTN)	XP_011510033.1:p.Tyr16717Ser
XM_017004819.1:c.76193A>C (TTN)	XP_016860308.1:p.Tyr25398Ser
XM_017004820.1:c.71591A>C (TTN)	XP_016860309.1:p.Tyr23864Ser
XM_017004821.1:c.71588A>C (TTN)	XP_016860310.1:p.Tyr23863Ser
XM_017004822.1:c.68630A>C (TTN)	XP_016860311.1:p.Tyr22877Ser
XM_017004823.1:c.50246A>C (TTN)	XP_016860312.1:p.Tyr16749Ser
XM_024453094.1:c.71741A>C (TTN)	XP_024308862.1:p.Tyr23914Ser
XM_024453095.1:c.71738A>C (TTN)	XP_024308863.1:p.Tyr23913Ser
XM_024453096.1:c.71171A>C (TTN)	XP_024308864.1:p.Tyr23724Ser
XM_024453097.1:c.68513A>C (TTN)	XP_024308865.1:p.Tyr22838Ser
XM_024453098.1:c.68432A>C (TTN)	XP_024308866.1:p.Tyr22811Ser
XM_024453099.1:c.50195A>C (TTN)	XP_024308867.1:p.Tyr16732Ser
XM_024453100.1:c.40049A>C (TTN)	XP_024308868.1:p.Tyr13350Ser