Canonical Allele Identifier: CA349659930

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 466655
• ClinVar RCV Id: RCV000530506 ; RCV002293451 ; RCV002330888
• dbSNP Id: rs1553612386
• gnomAD v4: 2-178575154-G-A
• COSMIC: COSM4766286 ; COSM4766287 ; COSM4766288 ; COSM4766289
• MyVariant Identifiers: chr2:g.179439881G>A (hg19) ; chr2:g.178575154G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178575154G>A , CM000664.2:g.178575154G>A	GRCh38
NC_000002.11:g.179439881G>A , CM000664.1:g.179439881G>A	GRCh37
NC_000002.10:g.179148127G>A	NCBI36
NG_011618.3:g.260649C>T , LRG_391:g.260649C>T
NG_051363.1:g.57328G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.63274C>T (TTN)	ENSP00000343764.6:p.Arg21092Ter
ENST00000342175.11:c.44359C>T (TTN)	ENSP00000340554.6:p.Arg14787Ter
ENST00000359218.10:c.44158C>T (TTN)	ENSP00000352154.5:p.Arg14720Ter
ENST00000342175.10:c.44359C>T (TTN)	ENSP00000340554.6:p.Arg14787Ter
ENST00000342992.10:c.63274C>T (TTN)	ENSP00000343764.6:p.Arg21092Ter
ENST00000359218.9:c.44158C>T (TTN)	ENSP00000352154.5:p.Arg14720Ter
ENST00000460472.6:c.43783C>T (TTN)	ENSP00000434586.1:p.Arg14595Ter
ENST00000589042.5:c.70978C>T (TTN) MANE Select	ENSP00000467141.1:p.Arg23660Ter
ENST00000591111.5:c.66055C>T (TTN)	ENSP00000465570.1:p.Arg22019Ter
ENST00000615779.4:c.66055C>T (TTN)	ENSP00000483597.1:p.Arg22019Ter
NM_001256850.1:c.66055C>T (TTN)	NP_001243779.1:p.Arg22019Ter
NM_001267550.2:c.70978C>T (TTN) MANE Select	NP_001254479.2:p.Arg23660Ter
NM_003319.4:c.43783C>T (TTN)	NP_003310.4:p.Arg14595Ter
NM_133378.4:c.63274C>T (TTN)	NP_596869.4:p.Arg21092Ter
NM_133432.3:c.44158C>T (TTN)	NP_597676.3:p.Arg14720Ter
NM_133437.4:c.44359C>T (TTN)	NP_597681.4:p.Arg14787Ter
NR_038271.1:n.596+3705G>A (TTN-AS1)
NR_038272.1:n.2044-7418G>A (TTN-AS1)
XM_011511729.1:c.70075C>T (TTN)	XP_011510031.1:p.Arg23359Ter
XM_011511730.1:c.43969C>T (TTN)	XP_011510032.1:p.Arg14657Ter
XM_011511731.1:c.43828C>T (TTN)	XP_011510033.1:p.Arg14610Ter
XM_017004819.1:c.69871C>T (TTN)	XP_016860308.1:p.Arg23291Ter
XM_017004820.1:c.65269C>T (TTN)	XP_016860309.1:p.Arg21757Ter
XM_017004821.1:c.65266C>T (TTN)	XP_016860310.1:p.Arg21756Ter
XM_017004822.1:c.62308C>T (TTN)	XP_016860311.1:p.Arg20770Ter
XM_017004823.1:c.43924C>T (TTN)	XP_016860312.1:p.Arg14642Ter
XM_024453094.1:c.65419C>T (TTN)	XP_024308862.1:p.Arg21807Ter
XM_024453095.1:c.65416C>T (TTN)	XP_024308863.1:p.Arg21806Ter
XM_024453096.1:c.64849C>T (TTN)	XP_024308864.1:p.Arg21617Ter
XM_024453097.1:c.62191C>T (TTN)	XP_024308865.1:p.Arg20731Ter
XM_024453098.1:c.62110C>T (TTN)	XP_024308866.1:p.Arg20704Ter
XM_024453099.1:c.43873C>T (TTN)	XP_024308867.1:p.Arg14625Ter
XM_024453100.1:c.33727C>T (TTN)	XP_024308868.1:p.Arg11243Ter