Canonical Allele Identifier: CA538434979

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 3223360
• ClinVar RCV Id: RCV004508715
• dbSNP Id: rs1181631215
• gnomAD v2: 2-179396922-CTT-C
• gnomAD v4: 2-178532195-CTT-C
• MyVariant Identifiers: chr2:g.179396923_179396924del (hg19) ; chr2:g.178532196_178532197del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532197_178532198del , CM000664.2:g.178532197_178532198del	GRCh38
NC_000002.11:g.179396924_179396925del , CM000664.1:g.179396924_179396925del	GRCh37
NC_000002.10:g.179105170_179105171del	NCBI36
NG_011618.3:g.303606_303607del , LRG_391:g.303606_303607del
NG_051363.1:g.14371_14372del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96714_96715del (TTN)	ENSP00000343764.6:p.Glu32240SerfsTer8
ENST00000342175.11:c.77799_77800del (TTN)	ENSP00000340554.6:p.Glu25935SerfsTer8
ENST00000359218.10:c.77598_77599del (TTN)	ENSP00000352154.5:p.Glu25868SerfsTer8
ENST00000342175.10:c.77799_77800del (TTN)	ENSP00000340554.6:p.Glu25935SerfsTer8
ENST00000342992.10:c.96714_96715del (TTN)	ENSP00000343764.6:p.Glu32240SerfsTer8
ENST00000359218.9:c.77598_77599del (TTN)	ENSP00000352154.5:p.Glu25868SerfsTer8
ENST00000460472.6:c.77223_77224del (TTN)	ENSP00000434586.1:p.Glu25743SerfsTer8
ENST00000589042.5:c.104418_104419del (TTN) MANE Select	ENSP00000467141.1:p.Glu34808SerfsTer8
ENST00000591111.5:c.99495_99496del (TTN)	ENSP00000465570.1:p.Glu33167SerfsTer8
ENST00000615779.4:c.99495_99496del (TTN)	ENSP00000483597.1:p.Glu33167SerfsTer8
NM_001256850.1:c.99495_99496del (TTN)	NP_001243779.1:p.Glu33167SerfsTer8
NM_001267550.2:c.104418_104419del (TTN) MANE Select	NP_001254479.2:p.Glu34808SerfsTer8
NM_003319.4:c.77223_77224del (TTN)	NP_003310.4:p.Glu25743SerfsTer8
NM_133378.4:c.96714_96715del (TTN)	NP_596869.4:p.Glu32240SerfsTer8
NM_133432.3:c.77598_77599del (TTN)	NP_597676.3:p.Glu25868SerfsTer8
NM_133437.4:c.77799_77800del (TTN)	NP_597681.4:p.Glu25935SerfsTer8
NR_038271.1:n.446+8561_446+8562del (TTN-AS1)
NR_038272.1:n.220-3535_220-3534del (TTN-AS1)
XM_011511729.1:c.103515_103516del (TTN)	XP_011510031.1:p.Glu34507SerfsTer8
XM_011511730.1:c.77409_77410del (TTN)	XP_011510032.1:p.Glu25805SerfsTer8
XM_011511731.1:c.77268_77269del (TTN)	XP_011510033.1:p.Glu25758SerfsTer8
XM_017004819.1:c.103311_103312del (TTN)	XP_016860308.1:p.Glu34439SerfsTer8
XM_017004820.1:c.98709_98710del (TTN)	XP_016860309.1:p.Glu32905SerfsTer8
XM_017004821.1:c.98706_98707del (TTN)	XP_016860310.1:p.Glu32904SerfsTer8
XM_017004822.1:c.95748_95749del (TTN)	XP_016860311.1:p.Glu31918SerfsTer8
XM_017004823.1:c.77364_77365del (TTN)	XP_016860312.1:p.Glu25790SerfsTer8
XM_024453094.1:c.98859_98860del (TTN)	XP_024308862.1:p.Glu32955SerfsTer8
XM_024453095.1:c.98856_98857del (TTN)	XP_024308863.1:p.Glu32954SerfsTer8
XM_024453096.1:c.98289_98290del (TTN)	XP_024308864.1:p.Glu32765SerfsTer8
XM_024453097.1:c.95631_95632del (TTN)	XP_024308865.1:p.Glu31879SerfsTer8
XM_024453098.1:c.95550_95551del (TTN)	XP_024308866.1:p.Glu31852SerfsTer8
XM_024453099.1:c.77313_77314del (TTN)	XP_024308867.1:p.Glu25773SerfsTer8
XM_024453100.1:c.67167_67168del (TTN)	XP_024308868.1:p.Glu22391SerfsTer8