Canonical Allele Identifier: CA1985176

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs774682538
• ExAC: 2:179395317 TA / T
• gnomAD v2: 2-179395317-TA-T
• gnomAD v4: 2-178530590-TA-T
• MyVariant Identifiers: chr2:g.179395318del (hg19) ; chr2:g.178530591del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530591del , CM000664.2:g.178530591del	GRCh38
NC_000002.11:g.179395318del , CM000664.1:g.179395318del	GRCh37
NC_000002.10:g.179103564del	NCBI36
NG_011618.3:g.305212del , LRG_391:g.305212del
NG_051363.1:g.12765del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98320del (TTN)	ENSP00000343764.6:p.Tyr32774MetfsTer?
ENST00000342175.11:c.79405del (TTN)	ENSP00000340554.6:p.Tyr26469MetfsTer?
ENST00000359218.10:c.79204del (TTN)	ENSP00000352154.5:p.Tyr26402MetfsTer?
ENST00000342175.10:c.79405del (TTN)	ENSP00000340554.6:p.Tyr26469MetfsTer?
ENST00000342992.10:c.98320del (TTN)	ENSP00000343764.6:p.Tyr32774MetfsTer?
ENST00000359218.9:c.79204del (TTN)	ENSP00000352154.5:p.Tyr26402MetfsTer?
ENST00000460472.6:c.78829del (TTN)	ENSP00000434586.1:p.Tyr26277MetfsTer?
ENST00000589042.5:c.106024del (TTN) MANE Select	ENSP00000467141.1:p.Tyr35342MetfsTer?
ENST00000591111.5:c.101101del (TTN)	ENSP00000465570.1:p.Tyr33701MetfsTer?
ENST00000615779.4:c.101101del (TTN)	ENSP00000483597.1:p.Tyr33701MetfsTer?
NM_001256850.1:c.101101del (TTN)	NP_001243779.1:p.Tyr33701MetfsTer?
NM_001267550.2:c.106024del (TTN) MANE Select	NP_001254479.2:p.Tyr35342MetfsTer?
NM_003319.4:c.78829del (TTN)	NP_003310.4:p.Tyr26277MetfsTer?
NM_133378.4:c.98320del (TTN)	NP_596869.4:p.Tyr32774MetfsTer?
NM_133432.3:c.79204del (TTN)	NP_597676.3:p.Tyr26402MetfsTer?
NM_133437.4:c.79405del (TTN)	NP_597681.4:p.Tyr26469MetfsTer?
NR_038271.1:n.446+6955del (TTN-AS1)
NR_038272.1:n.220-5141del (TTN-AS1)
XM_011511729.1:c.105121del (TTN)	XP_011510031.1:p.Tyr35041MetfsTer?
XM_011511730.1:c.79015del (TTN)	XP_011510032.1:p.Tyr26339MetfsTer?
XM_011511731.1:c.78874del (TTN)	XP_011510033.1:p.Tyr26292MetfsTer?
XM_017004819.1:c.104917del (TTN)	XP_016860308.1:p.Tyr34973MetfsTer?
XM_017004820.1:c.100315del (TTN)	XP_016860309.1:p.Tyr33439MetfsTer?
XM_017004821.1:c.100312del (TTN)	XP_016860310.1:p.Tyr33438MetfsTer?
XM_017004822.1:c.97354del (TTN)	XP_016860311.1:p.Tyr32452MetfsTer?
XM_017004823.1:c.78970del (TTN)	XP_016860312.1:p.Tyr26324MetfsTer?
XM_024453094.1:c.100465del (TTN)	XP_024308862.1:p.Tyr33489MetfsTer?
XM_024453095.1:c.100462del (TTN)	XP_024308863.1:p.Tyr33488MetfsTer?
XM_024453096.1:c.99895del (TTN)	XP_024308864.1:p.Tyr33299MetfsTer?
XM_024453097.1:c.97237del (TTN)	XP_024308865.1:p.Tyr32413MetfsTer?
XM_024453098.1:c.97156del (TTN)	XP_024308866.1:p.Tyr32386MetfsTer?
XM_024453099.1:c.78919del (TTN)	XP_024308867.1:p.Tyr26307MetfsTer?
XM_024453100.1:c.68773del (TTN)	XP_024308868.1:p.Tyr22925MetfsTer?