Canonical Allele Identifier: CA10576512

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 229469
• ClinVar RCV Id: RCV002485401
• dbSNP Id: rs876658068
• gnomAD v3: 2-178598547-T-C
• gnomAD v4: 2-178598547-T-C
• MyVariant Identifiers: chr2:g.179463274T>C (hg19) ; chr2:g.178598547T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178598547T>C , CM000664.2:g.178598547T>C	GRCh38
NC_000002.11:g.179463274T>C , CM000664.1:g.179463274T>C	GRCh37
NC_000002.10:g.179171519T>C	NCBI36
NG_011618.3:g.237256A>G , LRG_391:g.237256A>G
NG_051363.1:g.80721T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.49366A>G (TTN)	ENSP00000343764.6:p.Ile16456Val
ENST00000342175.11:c.30451A>G (TTN)	ENSP00000340554.6:p.Ile10151Val
ENST00000359218.10:c.30250A>G (TTN)	ENSP00000352154.5:p.Ile10084Val
ENST00000342175.10:c.30451A>G (TTN)	ENSP00000340554.6:p.Ile10151Val
ENST00000342992.10:c.49366A>G (TTN)	ENSP00000343764.6:p.Ile16456Val
ENST00000359218.9:c.30250A>G (TTN)	ENSP00000352154.5:p.Ile10084Val
ENST00000460472.6:c.29875A>G (TTN)	ENSP00000434586.1:p.Ile9959Val
ENST00000589042.5:c.57070A>G (TTN) MANE Select	ENSP00000467141.1:p.Ile19024Val
ENST00000591111.5:c.52147A>G (TTN)	ENSP00000465570.1:p.Ile17383Val
ENST00000615779.4:c.52147A>G (TTN)	ENSP00000483597.1:p.Ile17383Val
NM_001256850.1:c.52147A>G (TTN)	NP_001243779.1:p.Ile17383Val
NM_001267550.2:c.57070A>G (TTN) MANE Select	NP_001254479.2:p.Ile19024Val
NM_003319.4:c.29875A>G (TTN)	NP_003310.4:p.Ile9959Val
NM_133378.4:c.49366A>G (TTN)	NP_596869.4:p.Ile16456Val
NM_133432.3:c.30250A>G (TTN)	NP_597676.3:p.Ile10084Val
NM_133437.4:c.30451A>G (TTN)	NP_597681.4:p.Ile10151Val
NR_038271.1:n.682+866T>C (TTN-AS1)
NR_038272.1:n.3451-9T>C (TTN-AS1)
XM_011511729.1:c.56167A>G (TTN)	XP_011510031.1:p.Ile18723Val
XM_011511730.1:c.30061A>G (TTN)	XP_011510032.1:p.Ile10021Val
XM_011511731.1:c.29920A>G (TTN)	XP_011510033.1:p.Ile9974Val
XM_017004819.1:c.55963A>G (TTN)	XP_016860308.1:p.Ile18655Val
XM_017004820.1:c.51361A>G (TTN)	XP_016860309.1:p.Ile17121Val
XM_017004821.1:c.51358A>G (TTN)	XP_016860310.1:p.Ile17120Val
XM_017004822.1:c.48400A>G (TTN)	XP_016860311.1:p.Ile16134Val
XM_017004823.1:c.30016A>G (TTN)	XP_016860312.1:p.Ile10006Val
XM_024453094.1:c.51511A>G (TTN)	XP_024308862.1:p.Ile17171Val
XM_024453095.1:c.51508A>G (TTN)	XP_024308863.1:p.Ile17170Val
XM_024453096.1:c.50941A>G (TTN)	XP_024308864.1:p.Ile16981Val
XM_024453097.1:c.48283A>G (TTN)	XP_024308865.1:p.Ile16095Val
XM_024453098.1:c.48202A>G (TTN)	XP_024308866.1:p.Ile16068Val
XM_024453099.1:c.29965A>G (TTN)	XP_024308867.1:p.Ile9989Val
XM_024453100.1:c.19819A>G (TTN)	XP_024308868.1:p.Ile6607Val