Canonical Allele Identifier: CA10581864

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 238798
• ClinVar RCV Id: RCV000227749 ; RCV000627665 ; RCV001378733
• dbSNP Id: rs878854315
• MyVariant Identifiers: chr2:g.179472782_179472783del (hg19) ; chr2:g.178608055_178608056del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178608057_178608058del , CM000664.2:g.178608057_178608058del	GRCh38
NC_000002.11:g.179472784_179472785del , CM000664.1:g.179472784_179472785del	GRCh37
NC_000002.10:g.179181029_179181030del	NCBI36
NG_011618.3:g.227747_227748del , LRG_391:g.227747_227748del
NG_051363.1:g.90231_90232del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.45027_45028del (TTN)	ENSP00000343764.6:p.Arg15009SerfsTer3
ENST00000342175.11:c.26112_26113del (TTN)	ENSP00000340554.6:p.Arg8704SerfsTer3
ENST00000359218.10:c.25911_25912del (TTN)	ENSP00000352154.5:p.Arg8637SerfsTer3
ENST00000342175.10:c.26112_26113del (TTN)	ENSP00000340554.6:p.Arg8704SerfsTer3
ENST00000342992.10:c.45027_45028del (TTN)	ENSP00000343764.6:p.Arg15009SerfsTer3
ENST00000359218.9:c.25911_25912del (TTN)	ENSP00000352154.5:p.Arg8637SerfsTer3
ENST00000460472.6:c.25536_25537del (TTN)	ENSP00000434586.1:p.Arg8512SerfsTer3
ENST00000589042.5:c.52731_52732del (TTN) MANE Select	ENSP00000467141.1:p.Arg17577SerfsTer3
ENST00000591111.5:c.47808_47809del (TTN)	ENSP00000465570.1:p.Arg15936SerfsTer3
ENST00000615779.4:c.47808_47809del (TTN)	ENSP00000483597.1:p.Arg15936SerfsTer3
NM_001256850.1:c.47808_47809del (TTN)	NP_001243779.1:p.Arg15936SerfsTer3
NM_001267550.2:c.52731_52732del (TTN) MANE Select	NP_001254479.2:p.Arg17577SerfsTer3
NM_003319.4:c.25536_25537del (TTN)	NP_003310.4:p.Arg8512SerfsTer3
NM_133378.4:c.45027_45028del (TTN)	NP_596869.4:p.Arg15009SerfsTer3
NM_133432.3:c.25911_25912del (TTN)	NP_597676.3:p.Arg8637SerfsTer3
NM_133437.4:c.26112_26113del (TTN)	NP_597681.4:p.Arg8704SerfsTer3
NR_038271.1:n.683-110_683-109del (TTN-AS1)
XM_011511729.1:c.51828_51829del (TTN)	XP_011510031.1:p.Arg17276SerfsTer3
XM_011511730.1:c.25722_25723del (TTN)	XP_011510032.1:p.Arg8574SerfsTer3
XM_011511731.1:c.25581_25582del (TTN)	XP_011510033.1:p.Arg8527SerfsTer3
XM_017004819.1:c.51624_51625del (TTN)	XP_016860308.1:p.Arg17208SerfsTer3
XM_017004820.1:c.47022_47023del (TTN)	XP_016860309.1:p.Arg15674SerfsTer3
XM_017004821.1:c.47019_47020del (TTN)	XP_016860310.1:p.Arg15673SerfsTer3
XM_017004822.1:c.44061_44062del (TTN)	XP_016860311.1:p.Arg14687SerfsTer3
XM_017004823.1:c.25677_25678del (TTN)	XP_016860312.1:p.Arg8559SerfsTer3
XM_024453094.1:c.47172_47173del (TTN)	XP_024308862.1:p.Arg15724SerfsTer3
XM_024453095.1:c.47169_47170del (TTN)	XP_024308863.1:p.Arg15723SerfsTer3
XM_024453096.1:c.46602_46603del (TTN)	XP_024308864.1:p.Arg15534SerfsTer3
XM_024453097.1:c.43944_43945del (TTN)	XP_024308865.1:p.Arg14648SerfsTer3
XM_024453098.1:c.43863_43864del (TTN)	XP_024308866.1:p.Arg14621SerfsTer3
XM_024453099.1:c.25626_25627del (TTN)	XP_024308867.1:p.Arg8542SerfsTer3
XM_024453100.1:c.15480_15481del (TTN)	XP_024308868.1:p.Arg5160SerfsTer3