Canonical Allele Identifier: CA309412

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 202452
• ClinVar RCV Id: RCV000184313 ; RCV000476691 ; RCV000620137
• dbSNP Id: rs794729325
• gnomAD v4: 2-178605064-TC-T
• MyVariant Identifiers: chr2:g.179469792del (hg19) ; chr2:g.178605065del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178605067del , CM000664.2:g.178605067del	GRCh38
NC_000002.11:g.179469794del , CM000664.1:g.179469794del	GRCh37
NC_000002.10:g.179178039del	NCBI36
NG_011618.3:g.230738del , LRG_391:g.230738del
NG_051363.1:g.87241del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.46408del (TTN)	ENSP00000343764.6:p.Glu15470ArgfsTer?
ENST00000342175.11:c.27493del (TTN)	ENSP00000340554.6:p.Glu9165ArgfsTer?
ENST00000359218.10:c.27292del (TTN)	ENSP00000352154.5:p.Glu9098ArgfsTer?
ENST00000342175.10:c.27493del (TTN)	ENSP00000340554.6:p.Glu9165ArgfsTer?
ENST00000342992.10:c.46408del (TTN)	ENSP00000343764.6:p.Glu15470ArgfsTer?
ENST00000359218.9:c.27292del (TTN)	ENSP00000352154.5:p.Glu9098ArgfsTer?
ENST00000460472.6:c.26917del (TTN)	ENSP00000434586.1:p.Glu8973ArgfsTer?
ENST00000589042.5:c.54112del (TTN) MANE Select	ENSP00000467141.1:p.Glu18038ArgfsTer?
ENST00000591111.5:c.49189del (TTN)	ENSP00000465570.1:p.Glu16397ArgfsTer?
ENST00000615779.4:c.49189del (TTN)	ENSP00000483597.1:p.Glu16397ArgfsTer?
NM_001256850.1:c.49189del (TTN)	NP_001243779.1:p.Glu16397ArgfsTer?
NM_001267550.2:c.54112del (TTN) MANE Select	NP_001254479.2:p.Glu18038ArgfsTer?
NM_003319.4:c.26917del (TTN)	NP_003310.4:p.Glu8973ArgfsTer?
NM_133378.4:c.46408del (TTN)	NP_596869.4:p.Glu15470ArgfsTer?
NM_133432.3:c.27292del (TTN)	NP_597676.3:p.Glu9098ArgfsTer?
NM_133437.4:c.27493del (TTN)	NP_597681.4:p.Glu9165ArgfsTer?
NR_038271.1:n.683-3100del (TTN-AS1)
NR_038272.1:n.4254del (TTN-AS1)
XM_011511729.1:c.53209del (TTN)	XP_011510031.1:p.Glu17737ArgfsTer?
XM_011511730.1:c.27103del (TTN)	XP_011510032.1:p.Glu9035ArgfsTer?
XM_011511731.1:c.26962del (TTN)	XP_011510033.1:p.Glu8988ArgfsTer?
XM_017004819.1:c.53005del (TTN)	XP_016860308.1:p.Glu17669ArgfsTer?
XM_017004820.1:c.48403del (TTN)	XP_016860309.1:p.Glu16135ArgfsTer?
XM_017004821.1:c.48400del (TTN)	XP_016860310.1:p.Glu16134ArgfsTer?
XM_017004822.1:c.45442del (TTN)	XP_016860311.1:p.Glu15148ArgfsTer?
XM_017004823.1:c.27058del (TTN)	XP_016860312.1:p.Glu9020ArgfsTer?
XM_024453094.1:c.48553del (TTN)	XP_024308862.1:p.Glu16185ArgfsTer?
XM_024453095.1:c.48550del (TTN)	XP_024308863.1:p.Glu16184ArgfsTer?
XM_024453096.1:c.47983del (TTN)	XP_024308864.1:p.Glu15995ArgfsTer?
XM_024453097.1:c.45325del (TTN)	XP_024308865.1:p.Glu15109ArgfsTer?
XM_024453098.1:c.45244del (TTN)	XP_024308866.1:p.Glu15082ArgfsTer?
XM_024453099.1:c.27007del (TTN)	XP_024308867.1:p.Glu9003ArgfsTer?
XM_024453100.1:c.16861del (TTN)	XP_024308868.1:p.Glu5621ArgfsTer?