Canonical Allele Identifier: CA1989782

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs780849282
• ExAC: 2:179433464 C / CTGATTTCATTTCTTTTAACCATTATTGGTTCTGGGGTTCCTGG
• MyVariant Identifiers: chr2:g.179433464_179433465insTGATTTCATTTCTTTTAACCATTATTGGTTCTGGGGTTCCTGG (hg19) ; chr2:g.178568737_178568738insTGATTTCATTTCTTTTAACCATTATTGGTTCTGGGGTTCCTGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178568739_178568740insATTTCATTTCTTTTAACCATTATTGGTTCTGGGGTTCCTGGTG , CM000664.2:g.178568739_178568740insATTTCATTTCTTTTAACCATTATTGGTTCTGGGGTTCCTGGTG	GRCh38
NC_000002.11:g.179433466_179433467insATTTCATTTCTTTTAACCATTATTGGTTCTGGGGTTCCTGGTG , CM000664.1:g.179433466_179433467insATTTCATTTCTTTTAACCATTATTGGTTCTGGGGTTCCTGGTG	GRCh37
NC_000002.10:g.179141712_179141713insATTTCATTTCTTTTAACCATTATTGGTTCTGGGGTTCCTGGTG	NCBI36
NG_011618.3:g.267065_267066insCCAGGAACCCCAGAACCAATAATGGTTAAAAGAAATGAAATCA , LRG_391:g.267065_267066insCCAGGAACCCCAGAACCAATAATGGTTAAAAGAAATGAAATCA
NG_051363.1:g.50913_50914insATTTCATTTCTTTTAACCATTATTGGTTCTGGGGTTCCTGGTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.69690_69691insCCAGGAACCCCAGAACCAATAATGGTTAAAAGAAATGAAATCA (TTN)	ENSP00000343764.6:p.Asp23231ProfsTer22
ENST00000342175.11:c.50775_50776insCCAGGAACCCCAGAACCAATAATGGTTAAAAGAAATGAAATCA (TTN)	ENSP00000340554.6:p.Asp16926ProfsTer22
ENST00000359218.10:c.50574_50575insCCAGGAACCCCAGAACCAATAATGGTTAAAAGAAATGAAATCA (TTN)	ENSP00000352154.5:p.Asp16859ProfsTer22
ENST00000342175.10:c.50775_50776insCCAGGAACCCCAGAACCAATAATGGTTAAAAGAAATGAAATCA (TTN)	ENSP00000340554.6:p.Asp16926ProfsTer22
ENST00000342992.10:c.69690_69691insCCAGGAACCCCAGAACCAATAATGGTTAAAAGAAATGAAATCA (TTN)	ENSP00000343764.6:p.Asp23231ProfsTer22
ENST00000359218.9:c.50574_50575insCCAGGAACCCCAGAACCAATAATGGTTAAAAGAAATGAAATCA (TTN)	ENSP00000352154.5:p.Asp16859ProfsTer22
ENST00000460472.6:c.50199_50200insCCAGGAACCCCAGAACCAATAATGGTTAAAAGAAATGAAATCA (TTN)	ENSP00000434586.1:p.Asp16734ProfsTer22
ENST00000589042.5:c.77394_77395insCCAGGAACCCCAGAACCAATAATGGTTAAAAGAAATGAAATCA (TTN) MANE Select	ENSP00000467141.1:p.Asp25799ProfsTer22
ENST00000591111.5:c.72471_72472insCCAGGAACCCCAGAACCAATAATGGTTAAAAGAAATGAAATCA (TTN)	ENSP00000465570.1:p.Asp24158ProfsTer22
ENST00000615779.4:c.72471_72472insCCAGGAACCCCAGAACCAATAATGGTTAAAAGAAATGAAATCA (TTN)	ENSP00000483597.1:p.Asp24158ProfsTer22
NM_001256850.1:c.72471_72472insCCAGGAACCCCAGAACCAATAATGGTTAAAAGAAATGAAATCA (TTN)	NP_001243779.1:p.Asp24158ProfsTer22
NM_001267550.2:c.77394_77395insCCAGGAACCCCAGAACCAATAATGGTTAAAAGAAATGAAATCA (TTN) MANE Select	NP_001254479.2:p.Asp25799ProfsTer22
NM_003319.4:c.50199_50200insCCAGGAACCCCAGAACCAATAATGGTTAAAAGAAATGAAATCA (TTN)	NP_003310.4:p.Asp16734ProfsTer22
NM_133378.4:c.69690_69691insCCAGGAACCCCAGAACCAATAATGGTTAAAAGAAATGAAATCA (TTN)	NP_596869.4:p.Asp23231ProfsTer22
NM_133432.3:c.50574_50575insCCAGGAACCCCAGAACCAATAATGGTTAAAAGAAATGAAATCA (TTN)	NP_597676.3:p.Asp16859ProfsTer22
NM_133437.4:c.50775_50776insCCAGGAACCCCAGAACCAATAATGGTTAAAAGAAATGAAATCA (TTN)	NP_597681.4:p.Asp16926ProfsTer22
NR_038271.1:n.447-2561_447-2560insATTTCATTTCTTTTAACCATTATTGGTTCTGGGGTTCCTGGTG (TTN-AS1)
NR_038272.1:n.2044-13833_2044-13832insATTTCATTTCTTTTAACCATTATTGGTTCTGGGGTTCCTGGTG (TTN-AS1)
XM_011511729.1:c.76491_76492insCCAGGAACCCCAGAACCAATAATGGTTAAAAGAAATGAAATCA (TTN)	XP_011510031.1:p.Asp25498ProfsTer22
XM_011511730.1:c.50385_50386insCCAGGAACCCCAGAACCAATAATGGTTAAAAGAAATGAAATCA (TTN)	XP_011510032.1:p.Asp16796ProfsTer22
XM_011511731.1:c.50244_50245insCCAGGAACCCCAGAACCAATAATGGTTAAAAGAAATGAAATCA (TTN)	XP_011510033.1:p.Asp16749ProfsTer22
XM_017004819.1:c.76287_76288insCCAGGAACCCCAGAACCAATAATGGTTAAAAGAAATGAAATCA (TTN)	XP_016860308.1:p.Asp25430ProfsTer22
XM_017004820.1:c.71685_71686insCCAGGAACCCCAGAACCAATAATGGTTAAAAGAAATGAAATCA (TTN)	XP_016860309.1:p.Asp23896ProfsTer22
XM_017004821.1:c.71682_71683insCCAGGAACCCCAGAACCAATAATGGTTAAAAGAAATGAAATCA (TTN)	XP_016860310.1:p.Asp23895ProfsTer22
XM_017004822.1:c.68724_68725insCCAGGAACCCCAGAACCAATAATGGTTAAAAGAAATGAAATCA (TTN)	XP_016860311.1:p.Asp22909ProfsTer22
XM_017004823.1:c.50340_50341insCCAGGAACCCCAGAACCAATAATGGTTAAAAGAAATGAAATCA (TTN)	XP_016860312.1:p.Asp16781ProfsTer22
XM_024453094.1:c.71835_71836insCCAGGAACCCCAGAACCAATAATGGTTAAAAGAAATGAAATCA (TTN)	XP_024308862.1:p.Asp23946ProfsTer22
XM_024453095.1:c.71832_71833insCCAGGAACCCCAGAACCAATAATGGTTAAAAGAAATGAAATCA (TTN)	XP_024308863.1:p.Asp23945ProfsTer22
XM_024453096.1:c.71265_71266insCCAGGAACCCCAGAACCAATAATGGTTAAAAGAAATGAAATCA (TTN)	XP_024308864.1:p.Asp23756ProfsTer22
XM_024453097.1:c.68607_68608insCCAGGAACCCCAGAACCAATAATGGTTAAAAGAAATGAAATCA (TTN)	XP_024308865.1:p.Asp22870ProfsTer22
XM_024453098.1:c.68526_68527insCCAGGAACCCCAGAACCAATAATGGTTAAAAGAAATGAAATCA (TTN)	XP_024308866.1:p.Asp22843ProfsTer22
XM_024453099.1:c.50289_50290insCCAGGAACCCCAGAACCAATAATGGTTAAAAGAAATGAAATCA (TTN)	XP_024308867.1:p.Asp16764ProfsTer22
XM_024453100.1:c.40143_40144insCCAGGAACCCCAGAACCAATAATGGTTAAAAGAAATGAAATCA (TTN)	XP_024308868.1:p.Asp13382ProfsTer22