Canonical Allele Identifier: CA1995095

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs767648160
• ExAC: 2:179482917 A / G
• gnomAD v2: 2-179482917-A-G
• gnomAD v3: 2-178618190-A-G
• gnomAD v4: 2-178618190-A-G
• MyVariant Identifiers: chr2:g.179482917A>G (hg19) ; chr2:g.178618190A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178618190A>G , CM000664.2:g.178618190A>G	GRCh38
NC_000002.11:g.179482917A>G , CM000664.1:g.179482917A>G	GRCh37
NC_000002.10:g.179191162A>G	NCBI36
NG_011618.3:g.217613T>C , LRG_391:g.217613T>C
NG_051363.1:g.100364A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.39564T>C (TTN)	ENSP00000343764.6:p.Tyr13188=
ENST00000342175.11:c.20649T>C (TTN)	ENSP00000340554.6:p.Tyr6883=
ENST00000359218.10:c.20448T>C (TTN)	ENSP00000352154.5:p.Tyr6816=
ENST00000342175.10:c.20649T>C (TTN)	ENSP00000340554.6:p.Tyr6883=
ENST00000342992.10:c.39564T>C (TTN)	ENSP00000343764.6:p.Tyr13188=
ENST00000359218.9:c.20448T>C (TTN)	ENSP00000352154.5:p.Tyr6816=
ENST00000460472.6:c.20073T>C (TTN)	ENSP00000434586.1:p.Tyr6691=
ENST00000589042.5:c.47268T>C (TTN) MANE Select	ENSP00000467141.1:p.Tyr15756=
ENST00000591111.5:c.42345T>C (TTN)	ENSP00000465570.1:p.Tyr14115=
ENST00000615779.4:c.42345T>C (TTN)	ENSP00000483597.1:p.Tyr14115=
NM_001256850.1:c.42345T>C (TTN)	NP_001243779.1:p.Tyr14115=
NM_001267550.2:c.47268T>C (TTN) MANE Select	NP_001254479.2:p.Tyr15756=
NM_003319.4:c.20073T>C (TTN)	NP_003310.4:p.Tyr6691=
NM_133378.4:c.39564T>C (TTN)	NP_596869.4:p.Tyr13188=
NM_133432.3:c.20448T>C (TTN)	NP_597676.3:p.Tyr6816=
NM_133437.4:c.20649T>C (TTN)	NP_597681.4:p.Tyr6883=
NR_038271.1:n.1605-1563A>G (TTN-AS1)
XM_011511729.1:c.46365T>C (TTN)	XP_011510031.1:p.Tyr15455=
XM_011511730.1:c.20259T>C (TTN)	XP_011510032.1:p.Tyr6753=
XM_011511731.1:c.20118T>C (TTN)	XP_011510033.1:p.Tyr6706=
XM_017004819.1:c.46161T>C (TTN)	XP_016860308.1:p.Tyr15387=
XM_017004820.1:c.41559T>C (TTN)	XP_016860309.1:p.Tyr13853=
XM_017004821.1:c.41556T>C (TTN)	XP_016860310.1:p.Tyr13852=
XM_017004822.1:c.38598T>C (TTN)	XP_016860311.1:p.Tyr12866=
XM_017004823.1:c.20214T>C (TTN)	XP_016860312.1:p.Tyr6738=
XM_024453094.1:c.41709T>C (TTN)	XP_024308862.1:p.Tyr13903=
XM_024453095.1:c.41706T>C (TTN)	XP_024308863.1:p.Tyr13902=
XM_024453096.1:c.41139T>C (TTN)	XP_024308864.1:p.Tyr13713=
XM_024453097.1:c.38481T>C (TTN)	XP_024308865.1:p.Tyr12827=
XM_024453098.1:c.38400T>C (TTN)	XP_024308866.1:p.Tyr12800=
XM_024453099.1:c.20163T>C (TTN)	XP_024308867.1:p.Tyr6721=
XM_024453100.1:c.10017T>C (TTN)	XP_024308868.1:p.Tyr3339=