Canonical Allele Identifier: CA430101533

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178602439-T-C
• MyVariant Identifiers: chr2:g.179467166T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178602439T>C , CM000664.2:g.178602439T>C	GRCh38
NC_000002.11:g.179467166T>C , CM000664.1:g.179467166T>C	GRCh37
NC_000002.10:g.179175411T>C	NCBI36
NG_011618.3:g.233364A>G , LRG_391:g.233364A>G
NG_051363.1:g.84613T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.47259A>G (TTN)	ENSP00000343764.6:p.Arg15753=
ENST00000342175.11:c.28344A>G (TTN)	ENSP00000340554.6:p.Arg9448=
ENST00000359218.10:c.28143A>G (TTN)	ENSP00000352154.5:p.Arg9381=
ENST00000342175.10:c.28344A>G (TTN)	ENSP00000340554.6:p.Arg9448=
ENST00000342992.10:c.47259A>G (TTN)	ENSP00000343764.6:p.Arg15753=
ENST00000359218.9:c.28143A>G (TTN)	ENSP00000352154.5:p.Arg9381=
ENST00000460472.6:c.27768A>G (TTN)	ENSP00000434586.1:p.Arg9256=
ENST00000589042.5:c.54963A>G (TTN) MANE Select	ENSP00000467141.1:p.Arg18321=
ENST00000591111.5:c.50040A>G (TTN)	ENSP00000465570.1:p.Arg16680=
ENST00000615779.4:c.50040A>G (TTN)	ENSP00000483597.1:p.Arg16680=
NM_001256850.1:c.50040A>G (TTN)	NP_001243779.1:p.Arg16680=
NM_001267550.2:c.54963A>G (TTN) MANE Select	NP_001254479.2:p.Arg18321=
NM_003319.4:c.27768A>G (TTN)	NP_003310.4:p.Arg9256=
NM_133378.4:c.47259A>G (TTN)	NP_596869.4:p.Arg15753=
NM_133432.3:c.28143A>G (TTN)	NP_597676.3:p.Arg9381=
NM_133437.4:c.28344A>G (TTN)	NP_597681.4:p.Arg9448=
NR_038271.1:n.682+4758T>C (TTN-AS1)
NR_038272.1:n.3917+1772T>C (TTN-AS1)
XM_011511729.1:c.54060A>G (TTN)	XP_011510031.1:p.Arg18020=
XM_011511730.1:c.27954A>G (TTN)	XP_011510032.1:p.Arg9318=
XM_011511731.1:c.27813A>G (TTN)	XP_011510033.1:p.Arg9271=
XM_017004819.1:c.53856A>G (TTN)	XP_016860308.1:p.Arg17952=
XM_017004820.1:c.49254A>G (TTN)	XP_016860309.1:p.Arg16418=
XM_017004821.1:c.49251A>G (TTN)	XP_016860310.1:p.Arg16417=
XM_017004822.1:c.46293A>G (TTN)	XP_016860311.1:p.Arg15431=
XM_017004823.1:c.27909A>G (TTN)	XP_016860312.1:p.Arg9303=
XM_024453094.1:c.49404A>G (TTN)	XP_024308862.1:p.Arg16468=
XM_024453095.1:c.49401A>G (TTN)	XP_024308863.1:p.Arg16467=
XM_024453096.1:c.48834A>G (TTN)	XP_024308864.1:p.Arg16278=
XM_024453097.1:c.46176A>G (TTN)	XP_024308865.1:p.Arg15392=
XM_024453098.1:c.46095A>G (TTN)	XP_024308866.1:p.Arg15365=
XM_024453099.1:c.27858A>G (TTN)	XP_024308867.1:p.Arg9286=
XM_024453100.1:c.17712A>G (TTN)	XP_024308868.1:p.Arg5904=