Canonical Allele Identifier: CA658796075

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 523430
• ClinVar RCV Id: RCV000626791 ; RCV001198942
• dbSNP Id: rs1553707780
• MyVariant Identifiers: chr2:g.179481655del (hg19) ; chr2:g.178616928del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178616928del , CM000664.2:g.178616928del	GRCh38
NC_000002.11:g.179481655del , CM000664.1:g.179481655del	GRCh37
NC_000002.10:g.179189900del	NCBI36
NG_011618.3:g.218875del , LRG_391:g.218875del
NG_051363.1:g.99102del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.40257del (TTN)	ENSP00000343764.6:p.Gly13420AlafsTer16
ENST00000342175.11:c.21342del (TTN)	ENSP00000340554.6:p.Gly7115AlafsTer16
ENST00000359218.10:c.21141del (TTN)	ENSP00000352154.5:p.Gly7048AlafsTer16
ENST00000342175.10:c.21342del (TTN)	ENSP00000340554.6:p.Gly7115AlafsTer16
ENST00000342992.10:c.40257del (TTN)	ENSP00000343764.6:p.Gly13420AlafsTer16
ENST00000359218.9:c.21141del (TTN)	ENSP00000352154.5:p.Gly7048AlafsTer16
ENST00000460472.6:c.20766del (TTN)	ENSP00000434586.1:p.Gly6923AlafsTer16
ENST00000589042.5:c.47961del (TTN) MANE Select	ENSP00000467141.1:p.Gly15988AlafsTer16
ENST00000591111.5:c.43038del (TTN)	ENSP00000465570.1:p.Gly14347AlafsTer16
ENST00000615779.4:c.43038del (TTN)	ENSP00000483597.1:p.Gly14347AlafsTer16
NM_001256850.1:c.43038del (TTN)	NP_001243779.1:p.Gly14347AlafsTer16
NM_001267550.2:c.47961del (TTN) MANE Select	NP_001254479.2:p.Gly15988AlafsTer16
NM_003319.4:c.20766del (TTN)	NP_003310.4:p.Gly6923AlafsTer16
NM_133378.4:c.40257del (TTN)	NP_596869.4:p.Gly13420AlafsTer16
NM_133432.3:c.21141del (TTN)	NP_597676.3:p.Gly7048AlafsTer16
NM_133437.4:c.21342del (TTN)	NP_597681.4:p.Gly7115AlafsTer16
NR_038271.1:n.1604+1554del (TTN-AS1)
XM_011511729.1:c.47058del (TTN)	XP_011510031.1:p.Gly15687AlafsTer16
XM_011511730.1:c.20952del (TTN)	XP_011510032.1:p.Gly6985AlafsTer16
XM_011511731.1:c.20811del (TTN)	XP_011510033.1:p.Gly6938AlafsTer16
XM_017004819.1:c.46854del (TTN)	XP_016860308.1:p.Gly15619AlafsTer16
XM_017004820.1:c.42252del (TTN)	XP_016860309.1:p.Gly14085AlafsTer16
XM_017004821.1:c.42249del (TTN)	XP_016860310.1:p.Gly14084AlafsTer16
XM_017004822.1:c.39291del (TTN)	XP_016860311.1:p.Gly13098AlafsTer16
XM_017004823.1:c.20907del (TTN)	XP_016860312.1:p.Gly6970AlafsTer16
XM_024453094.1:c.42402del (TTN)	XP_024308862.1:p.Gly14135AlafsTer16
XM_024453095.1:c.42399del (TTN)	XP_024308863.1:p.Gly14134AlafsTer16
XM_024453096.1:c.41832del (TTN)	XP_024308864.1:p.Gly13945AlafsTer16
XM_024453097.1:c.39174del (TTN)	XP_024308865.1:p.Gly13059AlafsTer16
XM_024453098.1:c.39093del (TTN)	XP_024308866.1:p.Gly13032AlafsTer16
XM_024453099.1:c.20856del (TTN)	XP_024308867.1:p.Gly6953AlafsTer16
XM_024453100.1:c.10710del (TTN)	XP_024308868.1:p.Gly3571AlafsTer16