Canonical Allele Identifier: CA349470102

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1308471692
• gnomAD v4: 2-178546615-A-T
• MyVariant Identifiers: chr2:g.179411342A>T (hg19) ; chr2:g.178546615A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178546615A>T , CM000664.2:g.178546615A>T	GRCh38
NC_000002.11:g.179411342A>T , CM000664.1:g.179411342A>T	GRCh37
NC_000002.10:g.179119588A>T	NCBI36
NG_011618.3:g.289188T>A , LRG_391:g.289188T>A
NG_051363.1:g.28789A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.87109T>A (TTN)	ENSP00000343764.6:p.Cys29037Ser
ENST00000342175.11:c.68194T>A (TTN)	ENSP00000340554.6:p.Cys22732Ser
ENST00000359218.10:c.67993T>A (TTN)	ENSP00000352154.5:p.Cys22665Ser
ENST00000342175.10:c.68194T>A (TTN)	ENSP00000340554.6:p.Cys22732Ser
ENST00000342992.10:c.87109T>A (TTN)	ENSP00000343764.6:p.Cys29037Ser
ENST00000359218.9:c.67993T>A (TTN)	ENSP00000352154.5:p.Cys22665Ser
ENST00000460472.6:c.67618T>A (TTN)	ENSP00000434586.1:p.Cys22540Ser
ENST00000589042.5:c.94813T>A (TTN) MANE Select	ENSP00000467141.1:p.Cys31605Ser
ENST00000591111.5:c.89890T>A (TTN)	ENSP00000465570.1:p.Cys29964Ser
ENST00000615779.4:c.89890T>A (TTN)	ENSP00000483597.1:p.Cys29964Ser
NM_001256850.1:c.89890T>A (TTN)	NP_001243779.1:p.Cys29964Ser
NM_001267550.2:c.94813T>A (TTN) MANE Select	NP_001254479.2:p.Cys31605Ser
NM_003319.4:c.67618T>A (TTN)	NP_003310.4:p.Cys22540Ser
NM_133378.4:c.87109T>A (TTN)	NP_596869.4:p.Cys29037Ser
NM_133432.3:c.67993T>A (TTN)	NP_597676.3:p.Cys22665Ser
NM_133437.4:c.68194T>A (TTN)	NP_597681.4:p.Cys22732Ser
NR_038271.1:n.446+22979A>T (TTN-AS1)
NR_038272.1:n.2043+4254A>T (TTN-AS1)
XM_011511729.1:c.93910T>A (TTN)	XP_011510031.1:p.Cys31304Ser
XM_011511730.1:c.67804T>A (TTN)	XP_011510032.1:p.Cys22602Ser
XM_011511731.1:c.67663T>A (TTN)	XP_011510033.1:p.Cys22555Ser
XM_017004819.1:c.93706T>A (TTN)	XP_016860308.1:p.Cys31236Ser
XM_017004820.1:c.89104T>A (TTN)	XP_016860309.1:p.Cys29702Ser
XM_017004821.1:c.89101T>A (TTN)	XP_016860310.1:p.Cys29701Ser
XM_017004822.1:c.86143T>A (TTN)	XP_016860311.1:p.Cys28715Ser
XM_017004823.1:c.67759T>A (TTN)	XP_016860312.1:p.Cys22587Ser
XM_024453094.1:c.89254T>A (TTN)	XP_024308862.1:p.Cys29752Ser
XM_024453095.1:c.89251T>A (TTN)	XP_024308863.1:p.Cys29751Ser
XM_024453096.1:c.88684T>A (TTN)	XP_024308864.1:p.Cys29562Ser
XM_024453097.1:c.86026T>A (TTN)	XP_024308865.1:p.Cys28676Ser
XM_024453098.1:c.85945T>A (TTN)	XP_024308866.1:p.Cys28649Ser
XM_024453099.1:c.67708T>A (TTN)	XP_024308867.1:p.Cys22570Ser
XM_024453100.1:c.57562T>A (TTN)	XP_024308868.1:p.Cys19188Ser