Canonical Allele Identifier: CA273251

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 165765
• ClinVar RCV Id: RCV000152195 ; RCV001850077
• dbSNP Id: rs727503550
• MyVariant Identifiers: chr2:g.179421574C>G (hg19) ; chr2:g.178556847C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178556847C>G , CM000664.2:g.178556847C>G	GRCh38
NC_000002.11:g.179421574C>G , CM000664.1:g.179421574C>G	GRCh37
NC_000002.10:g.179129820C>G	NCBI36
NG_011618.3:g.278956G>C , LRG_391:g.278956G>C
NG_051363.1:g.39021C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.80602+1G>C (TTN)	ENSP00000343764.6:n.80602+1G>C
ENST00000342175.11:c.61687+1G>C (TTN)	ENSP00000340554.6:n.61687+1G>C
ENST00000359218.10:c.61486+1G>C (TTN)	ENSP00000352154.5:n.61486+1G>C
ENST00000342175.10:c.61687+1G>C (TTN)	ENSP00000340554.6:n.61687+1G>C
ENST00000342992.10:c.80602+1G>C (TTN)	ENSP00000343764.6:n.80602+1G>C
ENST00000359218.9:c.61486+1G>C (TTN)	ENSP00000352154.5:n.61486+1G>C
ENST00000460472.6:c.61111+1G>C (TTN)	ENSP00000434586.1:n.61111+1G>C
ENST00000589042.5:c.88306+1G>C (TTN) MANE Select	ENSP00000467141.1:n.88306+1G>C
ENST00000591111.5:c.83383+1G>C (TTN)	ENSP00000465570.1:n.83383+1G>C
ENST00000615779.4:c.83383+1G>C (TTN)	ENSP00000483597.1:n.83383+1G>C
NM_001256850.1:c.83383+1G>C (TTN)	NP_001243779.1:n.83383+1G>C
NM_001267550.2:c.88306+1G>C (TTN) MANE Select	NP_001254479.2:n.88306+1G>C
NM_003319.4:c.61111+1G>C (TTN)	NP_003310.4:n.61111+1G>C
NM_133378.4:c.80602+1G>C (TTN)	NP_596869.4:n.80602+1G>C
NM_133432.3:c.61486+1G>C (TTN)	NP_597676.3:n.61486+1G>C
NM_133437.4:c.61687+1G>C (TTN)	NP_597681.4:n.61687+1G>C
NR_038271.1:n.447-14453C>G (TTN-AS1)
NR_038272.1:n.2043+14486C>G (TTN-AS1)
XM_011511729.1:c.87403+1G>C (TTN)	XP_011510031.1:n.87403+1G>C
XM_011511730.1:c.61297+1G>C (TTN)	XP_011510032.1:n.61297+1G>C
XM_011511731.1:c.61156+1G>C (TTN)	XP_011510033.1:n.61156+1G>C
XM_017004819.1:c.87199+1G>C (TTN)	XP_016860308.1:n.87199+1G>C
XM_017004820.1:c.82597+1G>C (TTN)	XP_016860309.1:n.82597+1G>C
XM_017004821.1:c.82594+1G>C (TTN)	XP_016860310.1:n.82594+1G>C
XM_017004822.1:c.79636+1G>C (TTN)	XP_016860311.1:n.79636+1G>C
XM_017004823.1:c.61252+1G>C (TTN)	XP_016860312.1:n.61252+1G>C
XM_024453094.1:c.82747+1G>C (TTN)	XP_024308862.1:n.82747+1G>C
XM_024453095.1:c.82744+1G>C (TTN)	XP_024308863.1:n.82744+1G>C
XM_024453096.1:c.82177+1G>C (TTN)	XP_024308864.1:n.82177+1G>C
XM_024453097.1:c.79519+1G>C (TTN)	XP_024308865.1:n.79519+1G>C
XM_024453098.1:c.79438+1G>C (TTN)	XP_024308866.1:n.79438+1G>C
XM_024453099.1:c.61201+1G>C (TTN)	XP_024308867.1:n.61201+1G>C
XM_024453100.1:c.51055+1G>C (TTN)	XP_024308868.1:n.51055+1G>C