Canonical Allele Identifier: CA309541

Gene: TTN

Linked Data

• ClinVar Variation Id: 202537
• ClinVar RCV Id: RCV000184407 ; RCV000620246 ; RCV001241598 ; RCV003147383
• dbSNP Id: rs794729390
• gnomAD v4: 2-178621503-A-AGAGCT
• MyVariant Identifiers: chr2:g.179486231_179486235dupGAGCT (hg19) ; chr2:g.179486230_179486231insGAGCT (hg19) ; chr2:g.178621504_178621508dupGAGCT (hg38) ; chr2:g.178621503_178621504insGAGCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178621504_178621508dup , CM000664.2:g.178621504_178621508dup	GRCh38
NC_000002.11:g.179486231_179486235dup , CM000664.1:g.179486231_179486235dup	GRCh37
NC_000002.10:g.179194476_179194480dup	NCBI36
NG_011618.3:g.214295_214299dup , LRG_391:g.214295_214299dup
NG_051363.1:g.103678_103682dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.37612_37616dup	ENSP00000343764.6:p.Arg12540AlafsTer?
ENST00000342175.11:c.18697_18701dup	ENSP00000340554.6:p.Arg6235AlafsTer?
ENST00000359218.10:c.18496_18500dup	ENSP00000352154.5:p.Arg6168AlafsTer?
ENST00000342175.10:c.18697_18701dup	ENSP00000340554.6:p.Arg6235AlafsTer?
ENST00000342992.10:c.37612_37616dup	ENSP00000343764.6:p.Arg12540AlafsTer?
ENST00000359218.9:c.18496_18500dup	ENSP00000352154.5:p.Arg6168AlafsTer?
ENST00000460472.6:c.18121_18125dup	ENSP00000434586.1:p.Arg6043AlafsTer?
ENST00000589042.5:c.45316_45320dup MANE Select	ENSP00000467141.1:p.Arg15108AlafsTer?
ENST00000591111.5:c.40393_40397dup	ENSP00000465570.1:p.Arg13467AlafsTer?
ENST00000615779.4:c.40393_40397dup	ENSP00000483597.1:p.Arg13467AlafsTer?
NM_001256850.1:c.40393_40397dup	NP_001243779.1:p.Arg13467AlafsTer?
NM_001267550.2:c.45316_45320dup MANE Select	NP_001254479.2:p.Arg15108AlafsTer?
NM_003319.4:c.18121_18125dup	NP_003310.4:p.Arg6043AlafsTer?
NM_133378.4:c.37612_37616dup	NP_596869.4:p.Arg12540AlafsTer?
NM_133432.3:c.18496_18500dup	NP_597676.3:p.Arg6168AlafsTer?
NM_133437.4:c.18697_18701dup	NP_597681.4:p.Arg6235AlafsTer?
XM_011511729.1:c.44413_44417dup	XP_011510031.1:p.Arg14807AlafsTer?
XM_011511730.1:c.18307_18311dup	XP_011510032.1:p.Arg6105AlafsTer?
XM_011511731.1:c.18166_18170dup	XP_011510033.1:p.Arg6058AlafsTer?
XM_017004819.1:c.44209_44213dup	XP_016860308.1:p.Arg14739AlafsTer?
XM_017004820.1:c.39607_39611dup	XP_016860309.1:p.Arg13205AlafsTer?
XM_017004821.1:c.39604_39608dup	XP_016860310.1:p.Arg13204AlafsTer?
XM_017004822.1:c.36646_36650dup	XP_016860311.1:p.Arg12218AlafsTer?
XM_017004823.1:c.18262_18266dup	XP_016860312.1:p.Arg6090AlafsTer?
XM_024453094.1:c.39757_39761dup	XP_024308862.1:p.Arg13255AlafsTer?
XM_024453095.1:c.39754_39758dup	XP_024308863.1:p.Arg13254AlafsTer?
XM_024453096.1:c.39187_39191dup	XP_024308864.1:p.Arg13065AlafsTer?
XM_024453097.1:c.36529_36533dup	XP_024308865.1:p.Arg12179AlafsTer?
XM_024453098.1:c.36448_36452dup	XP_024308866.1:p.Arg12152AlafsTer?
XM_024453099.1:c.18211_18215dup	XP_024308867.1:p.Arg6073AlafsTer?
XM_024453100.1:c.8065_8069dup	XP_024308868.1:p.Arg2691AlafsTer?