Canonical Allele Identifier: CA1985414

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1760360
• ClinVar RCV Id: RCV002400736 ; RCV003138231
• dbSNP Id: rs754577440
• ExAC: 2:179396831 CAGT / C
• gnomAD v2: 2-179396831-CAGT-C
• gnomAD v3: 2-178532104-CAGT-C
• gnomAD v4: 2-178532104-CAGT-C
• MyVariant Identifiers: chr2:g.179396832_179396834del (hg19) ; chr2:g.178532105_178532107del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532108_178532110del , CM000664.2:g.178532108_178532110del	GRCh38
NC_000002.11:g.179396835_179396837del , CM000664.1:g.179396835_179396837del	GRCh37
NC_000002.10:g.179105081_179105083del	NCBI36
NG_011618.3:g.303696_303698del , LRG_391:g.303696_303698del
NG_051363.1:g.14282_14284del

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.96804_96806del (TTN)	ENSP00000343764.6:p.Leu32269del
ENST00000342175.11:c.77889_77891del (TTN)	ENSP00000340554.6:p.Leu25964del
ENST00000359218.10:c.77688_77690del (TTN)	ENSP00000352154.5:p.Leu25897del
ENST00000342175.10:c.77889_77891del (TTN)	ENSP00000340554.6:p.Leu25964del
ENST00000342992.10:c.96804_96806del (TTN)	ENSP00000343764.6:p.Leu32269del
ENST00000359218.9:c.77688_77690del (TTN)	ENSP00000352154.5:p.Leu25897del
ENST00000460472.6:c.77313_77315del (TTN)	ENSP00000434586.1:p.Leu25772del
ENST00000589042.5:c.104508_104510del (TTN) MANE Select	ENSP00000467141.1:p.Leu34837del
ENST00000591111.5:c.99585_99587del (TTN)	ENSP00000465570.1:p.Leu33196del
ENST00000615779.4:c.99585_99587del (TTN)	ENSP00000483597.1:p.Leu33196del
NM_001256850.1:c.99585_99587del (TTN)	NP_001243779.1:p.Leu33196del
NM_001267550.2:c.104508_104510del (TTN) MANE Select	NP_001254479.2:p.Leu34837del
NM_003319.4:c.77313_77315del (TTN)	NP_003310.4:p.Leu25772del
NM_133378.4:c.96804_96806del (TTN)	NP_596869.4:p.Leu32269del
NM_133432.3:c.77688_77690del (TTN)	NP_597676.3:p.Leu25897del
NM_133437.4:c.77889_77891del (TTN)	NP_597681.4:p.Leu25964del
NR_038271.1:n.446+8472_446+8474del (TTN-AS1)
NR_038272.1:n.220-3624_220-3622del (TTN-AS1)
XM_011511729.1:c.103605_103607del (TTN)	XP_011510031.1:p.Leu34536del
XM_011511730.1:c.77499_77501del (TTN)	XP_011510032.1:p.Leu25834del
XM_011511731.1:c.77358_77360del (TTN)	XP_011510033.1:p.Leu25787del
XM_017004819.1:c.103401_103403del (TTN)	XP_016860308.1:p.Leu34468del
XM_017004820.1:c.98799_98801del (TTN)	XP_016860309.1:p.Leu32934del
XM_017004821.1:c.98796_98798del (TTN)	XP_016860310.1:p.Leu32933del
XM_017004822.1:c.95838_95840del (TTN)	XP_016860311.1:p.Leu31947del
XM_017004823.1:c.77454_77456del (TTN)	XP_016860312.1:p.Leu25819del
XM_024453094.1:c.98949_98951del (TTN)	XP_024308862.1:p.Leu32984del
XM_024453095.1:c.98946_98948del (TTN)	XP_024308863.1:p.Leu32983del
XM_024453096.1:c.98379_98381del (TTN)	XP_024308864.1:p.Leu32794del
XM_024453097.1:c.95721_95723del (TTN)	XP_024308865.1:p.Leu31908del
XM_024453098.1:c.95640_95642del (TTN)	XP_024308866.1:p.Leu31881del
XM_024453099.1:c.77403_77405del (TTN)	XP_024308867.1:p.Leu25802del
XM_024453100.1:c.67257_67259del (TTN)	XP_024308868.1:p.Leu22420del