Canonical Allele Identifier: CA10613088

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 332829
• ClinVar RCV Id: RCV000278078 ; RCV000335442 ; RCV000339118 ; RCV000375037 ; RCV000378631 ; RCV001434068
• dbSNP Id: rs886055261
• gnomAD v4: 2-178599198-A-G
• MyVariant Identifiers: chr2:g.179463925A>G (hg19) ; chr2:g.178599198A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178599198A>G , CM000664.2:g.178599198A>G	GRCh38
NC_000002.11:g.179463925A>G , CM000664.1:g.179463925A>G	GRCh37
NC_000002.10:g.179172170A>G	NCBI36
NG_011618.3:g.236605T>C , LRG_391:g.236605T>C
NG_051363.1:g.81372A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.48891T>C (TTN)	ENSP00000343764.6:p.Tyr16297=
ENST00000342175.11:c.29976T>C (TTN)	ENSP00000340554.6:p.Tyr9992=
ENST00000359218.10:c.29775T>C (TTN)	ENSP00000352154.5:p.Tyr9925=
ENST00000342175.10:c.29976T>C (TTN)	ENSP00000340554.6:p.Tyr9992=
ENST00000342992.10:c.48891T>C (TTN)	ENSP00000343764.6:p.Tyr16297=
ENST00000359218.9:c.29775T>C (TTN)	ENSP00000352154.5:p.Tyr9925=
ENST00000460472.6:c.29400T>C (TTN)	ENSP00000434586.1:p.Tyr9800=
ENST00000589042.5:c.56595T>C (TTN) MANE Select	ENSP00000467141.1:p.Tyr18865=
ENST00000591111.5:c.51672T>C (TTN)	ENSP00000465570.1:p.Tyr17224=
ENST00000615779.4:c.51672T>C (TTN)	ENSP00000483597.1:p.Tyr17224=
NM_001256850.1:c.51672T>C (TTN)	NP_001243779.1:p.Tyr17224=
NM_001267550.2:c.56595T>C (TTN) MANE Select	NP_001254479.2:p.Tyr18865=
NM_003319.4:c.29400T>C (TTN)	NP_003310.4:p.Tyr9800=
NM_133378.4:c.48891T>C (TTN)	NP_596869.4:p.Tyr16297=
NM_133432.3:c.29775T>C (TTN)	NP_597676.3:p.Tyr9925=
NM_133437.4:c.29976T>C (TTN)	NP_597681.4:p.Tyr9992=
NR_038271.1:n.682+1517A>G (TTN-AS1)
NR_038272.1:n.3569-396A>G (TTN-AS1)
XM_011511729.1:c.55692T>C (TTN)	XP_011510031.1:p.Tyr18564=
XM_011511730.1:c.29586T>C (TTN)	XP_011510032.1:p.Tyr9862=
XM_011511731.1:c.29445T>C (TTN)	XP_011510033.1:p.Tyr9815=
XM_017004819.1:c.55488T>C (TTN)	XP_016860308.1:p.Tyr18496=
XM_017004820.1:c.50886T>C (TTN)	XP_016860309.1:p.Tyr16962=
XM_017004821.1:c.50883T>C (TTN)	XP_016860310.1:p.Tyr16961=
XM_017004822.1:c.47925T>C (TTN)	XP_016860311.1:p.Tyr15975=
XM_017004823.1:c.29541T>C (TTN)	XP_016860312.1:p.Tyr9847=
XM_024453094.1:c.51036T>C (TTN)	XP_024308862.1:p.Tyr17012=
XM_024453095.1:c.51033T>C (TTN)	XP_024308863.1:p.Tyr17011=
XM_024453096.1:c.50466T>C (TTN)	XP_024308864.1:p.Tyr16822=
XM_024453097.1:c.47808T>C (TTN)	XP_024308865.1:p.Tyr15936=
XM_024453098.1:c.47727T>C (TTN)	XP_024308866.1:p.Tyr15909=
XM_024453099.1:c.29490T>C (TTN)	XP_024308867.1:p.Tyr9830=
XM_024453100.1:c.19344T>C (TTN)	XP_024308868.1:p.Tyr6448=