Canonical Allele Identifier: CA10576498

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 228302
• ClinVar RCV Id: RCV000218778 ; RCV002519624
• dbSNP Id: rs876657667
• MyVariant Identifiers: chr2:g.179451536T>C (hg19) ; chr2:g.178586809T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178586809T>C , CM000664.2:g.178586809T>C	GRCh38
NC_000002.11:g.179451536T>C , CM000664.1:g.179451536T>C	GRCh37
NC_000002.10:g.179159782T>C	NCBI36
NG_011618.3:g.248994A>G , LRG_391:g.248994A>G
NG_051363.1:g.68983T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.56390-2A>G (TTN)	ENSP00000343764.6:n.56390-2A>G
ENST00000342175.11:c.37475-2A>G (TTN)	ENSP00000340554.6:n.37475-2A>G
ENST00000359218.10:c.37274-2A>G (TTN)	ENSP00000352154.5:n.37274-2A>G
ENST00000342175.10:c.37475-2A>G (TTN)	ENSP00000340554.6:n.37475-2A>G
ENST00000342992.10:c.56390-2A>G (TTN)	ENSP00000343764.6:n.56390-2A>G
ENST00000359218.9:c.37274-2A>G (TTN)	ENSP00000352154.5:n.37274-2A>G
ENST00000460472.6:c.36899-2A>G (TTN)	ENSP00000434586.1:n.36899-2A>G
ENST00000589042.5:c.64094-2A>G (TTN) MANE Select	ENSP00000467141.1:n.64094-2A>G
ENST00000591111.5:c.59171-2A>G (TTN)	ENSP00000465570.1:n.59171-2A>G
ENST00000615779.4:c.59171-2A>G (TTN)	ENSP00000483597.1:n.59171-2A>G
NM_001256850.1:c.59171-2A>G (TTN)	NP_001243779.1:n.59171-2A>G
NM_001267550.2:c.64094-2A>G (TTN) MANE Select	NP_001254479.2:n.64094-2A>G
NM_003319.4:c.36899-2A>G (TTN)	NP_003310.4:n.36899-2A>G
NM_133378.4:c.56390-2A>G (TTN)	NP_596869.4:n.56390-2A>G
NM_133432.3:c.37274-2A>G (TTN)	NP_597676.3:n.37274-2A>G
NM_133437.4:c.37475-2A>G (TTN)	NP_597681.4:n.37475-2A>G
NR_038271.1:n.597-10787T>C (TTN-AS1)
NR_038272.1:n.3188+1816T>C (TTN-AS1)
XM_011511729.1:c.63191-2A>G (TTN)	XP_011510031.1:n.63191-2A>G
XM_011511730.1:c.37085-2A>G (TTN)	XP_011510032.1:n.37085-2A>G
XM_011511731.1:c.36944-2A>G (TTN)	XP_011510033.1:n.36944-2A>G
XM_017004819.1:c.62987-2A>G (TTN)	XP_016860308.1:n.62987-2A>G
XM_017004820.1:c.58385-2A>G (TTN)	XP_016860309.1:n.58385-2A>G
XM_017004821.1:c.58382-2A>G (TTN)	XP_016860310.1:n.58382-2A>G
XM_017004822.1:c.55424-2A>G (TTN)	XP_016860311.1:n.55424-2A>G
XM_017004823.1:c.37040-2A>G (TTN)	XP_016860312.1:n.37040-2A>G
XM_024453094.1:c.58535-2A>G (TTN)	XP_024308862.1:n.58535-2A>G
XM_024453095.1:c.58532-2A>G (TTN)	XP_024308863.1:n.58532-2A>G
XM_024453096.1:c.57965-2A>G (TTN)	XP_024308864.1:n.57965-2A>G
XM_024453097.1:c.55307-2A>G (TTN)	XP_024308865.1:n.55307-2A>G
XM_024453098.1:c.55226-2A>G (TTN)	XP_024308866.1:n.55226-2A>G
XM_024453099.1:c.36989-2A>G (TTN)	XP_024308867.1:n.36989-2A>G
XM_024453100.1:c.26843-2A>G (TTN)	XP_024308868.1:n.26843-2A>G