Canonical Allele Identifier: CA10604437

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 283245
• ClinVar RCV Id: RCV000403585
• dbSNP Id: rs869320739
• MyVariant Identifiers: chr2:g.179410837G>T (hg19) ; chr2:g.178546110G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178546110G>T , CM000664.2:g.178546110G>T	GRCh38
NC_000002.11:g.179410837G>T , CM000664.1:g.179410837G>T	GRCh37
NC_000002.10:g.179119083G>T	NCBI36
NG_011618.3:g.289693C>A , LRG_391:g.289693C>A
NG_051363.1:g.28284G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.87422C>A (TTN)	ENSP00000343764.6:p.Pro29141His
ENST00000342175.11:c.68507C>A (TTN)	ENSP00000340554.6:p.Pro22836His
ENST00000359218.10:c.68306C>A (TTN)	ENSP00000352154.5:p.Pro22769His
ENST00000342175.10:c.68507C>A (TTN)	ENSP00000340554.6:p.Pro22836His
ENST00000342992.10:c.87422C>A (TTN)	ENSP00000343764.6:p.Pro29141His
ENST00000359218.9:c.68306C>A (TTN)	ENSP00000352154.5:p.Pro22769His
ENST00000460472.6:c.67931C>A (TTN)	ENSP00000434586.1:p.Pro22644His
ENST00000589042.5:c.95126C>A (TTN) MANE Select	ENSP00000467141.1:p.Pro31709His
ENST00000591111.5:c.90203C>A (TTN)	ENSP00000465570.1:p.Pro30068His
ENST00000615779.4:c.90203C>A (TTN)	ENSP00000483597.1:p.Pro30068His
NM_001256850.1:c.90203C>A (TTN)	NP_001243779.1:p.Pro30068His
NM_001267550.2:c.95126C>A (TTN) MANE Select	NP_001254479.2:p.Pro31709His
NM_003319.4:c.67931C>A (TTN)	NP_003310.4:p.Pro22644His
NM_133378.4:c.87422C>A (TTN)	NP_596869.4:p.Pro29141His
NM_133432.3:c.68306C>A (TTN)	NP_597676.3:p.Pro22769His
NM_133437.4:c.68507C>A (TTN)	NP_597681.4:p.Pro22836His
NR_038271.1:n.446+22474G>T (TTN-AS1)
NR_038272.1:n.2043+3749G>T (TTN-AS1)
XM_011511729.1:c.94223C>A (TTN)	XP_011510031.1:p.Pro31408His
XM_011511730.1:c.68117C>A (TTN)	XP_011510032.1:p.Pro22706His
XM_011511731.1:c.67976C>A (TTN)	XP_011510033.1:p.Pro22659His
XM_017004819.1:c.94019C>A (TTN)	XP_016860308.1:p.Pro31340His
XM_017004820.1:c.89417C>A (TTN)	XP_016860309.1:p.Pro29806His
XM_017004821.1:c.89414C>A (TTN)	XP_016860310.1:p.Pro29805His
XM_017004822.1:c.86456C>A (TTN)	XP_016860311.1:p.Pro28819His
XM_017004823.1:c.68072C>A (TTN)	XP_016860312.1:p.Pro22691His
XM_024453094.1:c.89567C>A (TTN)	XP_024308862.1:p.Pro29856His
XM_024453095.1:c.89564C>A (TTN)	XP_024308863.1:p.Pro29855His
XM_024453096.1:c.88997C>A (TTN)	XP_024308864.1:p.Pro29666His
XM_024453097.1:c.86339C>A (TTN)	XP_024308865.1:p.Pro28780His
XM_024453098.1:c.86258C>A (TTN)	XP_024308866.1:p.Pro28753His
XM_024453099.1:c.68021C>A (TTN)	XP_024308867.1:p.Pro22674His
XM_024453100.1:c.57875C>A (TTN)	XP_024308868.1:p.Pro19292His