Canonical Allele Identifier: CA049115

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 242624
• ClinVar RCV Id: RCV003326384 ; RCV003765466
• dbSNP Id: rs727504482
• gnomAD v3: 2-178530595-AC-A
• gnomAD v4: 2-178530595-AC-A
• MyVariant Identifiers: chr2:g.179395323del (hg19) ; chr2:g.178530596del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530597del , CM000664.2:g.178530597del	GRCh38
NC_000002.11:g.179395324del , CM000664.1:g.179395324del	GRCh37
NC_000002.10:g.179103570del	NCBI36
NG_011618.3:g.305207del , LRG_391:g.305207del
NG_051363.1:g.12771del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98315del (TTN)	ENSP00000343764.6:p.Gly32772ValfsTer?
ENST00000342175.11:c.79400del (TTN)	ENSP00000340554.6:p.Gly26467ValfsTer?
ENST00000359218.10:c.79199del (TTN)	ENSP00000352154.5:p.Gly26400ValfsTer?
ENST00000342175.10:c.79400del (TTN)	ENSP00000340554.6:p.Gly26467ValfsTer?
ENST00000342992.10:c.98315del (TTN)	ENSP00000343764.6:p.Gly32772ValfsTer?
ENST00000359218.9:c.79199del (TTN)	ENSP00000352154.5:p.Gly26400ValfsTer?
ENST00000460472.6:c.78824del (TTN)	ENSP00000434586.1:p.Gly26275ValfsTer?
ENST00000589042.5:c.106019del (TTN) MANE Select	ENSP00000467141.1:p.Gly35340ValfsTer?
ENST00000591111.5:c.101096del (TTN)	ENSP00000465570.1:p.Gly33699ValfsTer?
ENST00000615779.4:c.101096del (TTN)	ENSP00000483597.1:p.Gly33699ValfsTer?
NM_001256850.1:c.101096del (TTN)	NP_001243779.1:p.Gly33699ValfsTer?
NM_001267550.2:c.106019del (TTN) MANE Select	NP_001254479.2:p.Gly35340ValfsTer?
NM_003319.4:c.78824del (TTN)	NP_003310.4:p.Gly26275ValfsTer?
NM_133378.4:c.98315del (TTN)	NP_596869.4:p.Gly32772ValfsTer?
NM_133432.3:c.79199del (TTN)	NP_597676.3:p.Gly26400ValfsTer?
NM_133437.4:c.79400del (TTN)	NP_597681.4:p.Gly26467ValfsTer?
NR_038271.1:n.446+6961del (TTN-AS1)
NR_038272.1:n.220-5135del (TTN-AS1)
XM_011511729.1:c.105116del (TTN)	XP_011510031.1:p.Gly35039ValfsTer?
XM_011511730.1:c.79010del (TTN)	XP_011510032.1:p.Gly26337ValfsTer?
XM_011511731.1:c.78869del (TTN)	XP_011510033.1:p.Gly26290ValfsTer?
XM_017004819.1:c.104912del (TTN)	XP_016860308.1:p.Gly34971ValfsTer?
XM_017004820.1:c.100310del (TTN)	XP_016860309.1:p.Gly33437ValfsTer?
XM_017004821.1:c.100307del (TTN)	XP_016860310.1:p.Gly33436ValfsTer?
XM_017004822.1:c.97349del (TTN)	XP_016860311.1:p.Gly32450ValfsTer?
XM_017004823.1:c.78965del (TTN)	XP_016860312.1:p.Gly26322ValfsTer?
XM_024453094.1:c.100460del (TTN)	XP_024308862.1:p.Gly33487ValfsTer?
XM_024453095.1:c.100457del (TTN)	XP_024308863.1:p.Gly33486ValfsTer?
XM_024453096.1:c.99890del (TTN)	XP_024308864.1:p.Gly33297ValfsTer?
XM_024453097.1:c.97232del (TTN)	XP_024308865.1:p.Gly32411ValfsTer?
XM_024453098.1:c.97151del (TTN)	XP_024308866.1:p.Gly32384ValfsTer?
XM_024453099.1:c.78914del (TTN)	XP_024308867.1:p.Gly26305ValfsTer?
XM_024453100.1:c.68768del (TTN)	XP_024308868.1:p.Gly22923ValfsTer?