Canonical Allele Identifier: CA60953073

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1461209
• ClinVar RCV Id: RCV001983269
• dbSNP Id: rs376392819
• gnomAD v3: 2-178530106-T-C
• gnomAD v4: 2-178530106-T-C
• MyVariant Identifiers: chr2:g.179394833T>C (hg19) ; chr2:g.178530106T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530106T>C , CM000664.2:g.178530106T>C	GRCh38
NC_000002.11:g.179394833T>C , CM000664.1:g.179394833T>C	GRCh37
NC_000002.10:g.179103079T>C	NCBI36
NG_011618.3:g.305697A>G , LRG_391:g.305697A>G
NG_051363.1:g.12280T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98681A>G (TTN)	ENSP00000343764.6:p.Gln32894Arg
ENST00000342175.11:c.79766A>G (TTN)	ENSP00000340554.6:p.Gln26589Arg
ENST00000359218.10:c.79565A>G (TTN)	ENSP00000352154.5:p.Gln26522Arg
ENST00000342175.10:c.79766A>G (TTN)	ENSP00000340554.6:p.Gln26589Arg
ENST00000342992.10:c.98681A>G (TTN)	ENSP00000343764.6:p.Gln32894Arg
ENST00000359218.9:c.79565A>G (TTN)	ENSP00000352154.5:p.Gln26522Arg
ENST00000460472.6:c.79190A>G (TTN)	ENSP00000434586.1:p.Gln26397Arg
ENST00000589042.5:c.106385A>G (TTN) MANE Select	ENSP00000467141.1:p.Gln35462Arg
ENST00000591111.5:c.101462A>G (TTN)	ENSP00000465570.1:p.Gln33821Arg
ENST00000615779.4:c.101462A>G (TTN)	ENSP00000483597.1:p.Gln33821Arg
NM_001256850.1:c.101462A>G (TTN)	NP_001243779.1:p.Gln33821Arg
NM_001267550.2:c.106385A>G (TTN) MANE Select	NP_001254479.2:p.Gln35462Arg
NM_003319.4:c.79190A>G (TTN)	NP_003310.4:p.Gln26397Arg
NM_133378.4:c.98681A>G (TTN)	NP_596869.4:p.Gln32894Arg
NM_133432.3:c.79565A>G (TTN)	NP_597676.3:p.Gln26522Arg
NM_133437.4:c.79766A>G (TTN)	NP_597681.4:p.Gln26589Arg
NR_038271.1:n.446+6470T>C (TTN-AS1)
NR_038272.1:n.220-5626T>C (TTN-AS1)
XM_011511729.1:c.105482A>G (TTN)	XP_011510031.1:p.Gln35161Arg
XM_011511730.1:c.79376A>G (TTN)	XP_011510032.1:p.Gln26459Arg
XM_011511731.1:c.79235A>G (TTN)	XP_011510033.1:p.Gln26412Arg
XM_017004819.1:c.105278A>G (TTN)	XP_016860308.1:p.Gln35093Arg
XM_017004820.1:c.100676A>G (TTN)	XP_016860309.1:p.Gln33559Arg
XM_017004821.1:c.100673A>G (TTN)	XP_016860310.1:p.Gln33558Arg
XM_017004822.1:c.97715A>G (TTN)	XP_016860311.1:p.Gln32572Arg
XM_017004823.1:c.79331A>G (TTN)	XP_016860312.1:p.Gln26444Arg
XM_024453094.1:c.100826A>G (TTN)	XP_024308862.1:p.Gln33609Arg
XM_024453095.1:c.100823A>G (TTN)	XP_024308863.1:p.Gln33608Arg
XM_024453096.1:c.100256A>G (TTN)	XP_024308864.1:p.Gln33419Arg
XM_024453097.1:c.97598A>G (TTN)	XP_024308865.1:p.Gln32533Arg
XM_024453098.1:c.97517A>G (TTN)	XP_024308866.1:p.Gln32506Arg
XM_024453099.1:c.79280A>G (TTN)	XP_024308867.1:p.Gln26427Arg
XM_024453100.1:c.69134A>G (TTN)	XP_024308868.1:p.Gln23045Arg