Canonical Allele Identifier: CA1986768

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs200508614
• ExAC: 2:179408435 CT / C
• gnomAD v2: 2-179408435-CT-C
• gnomAD v3: 2-178543708-CT-C
• gnomAD v4: 2-178543708-CT-C
• MyVariant Identifiers: chr2:g.179408436del (hg19) ; chr2:g.178543709del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543717del , CM000664.2:g.178543717del	GRCh38
NC_000002.11:g.179408444del , CM000664.1:g.179408444del	GRCh37
NC_000002.10:g.179116690del	NCBI36
NG_011618.3:g.292094del , LRG_391:g.292094del
NG_051363.1:g.25891del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88607-47del (TTN)	ENSP00000343764.6:n.88607-47del
ENST00000342175.11:c.69692-47del (TTN)	ENSP00000340554.6:n.69692-47del
ENST00000359218.10:c.69491-47del (TTN)	ENSP00000352154.5:n.69491-47del
ENST00000342175.10:c.69692-47del (TTN)	ENSP00000340554.6:n.69692-47del
ENST00000342992.10:c.88607-47del (TTN)	ENSP00000343764.6:n.88607-47del
ENST00000359218.9:c.69491-47del (TTN)	ENSP00000352154.5:n.69491-47del
ENST00000460472.6:c.69116-47del (TTN)	ENSP00000434586.1:n.69116-47del
ENST00000589042.5:c.96311-47del (TTN) MANE Select	ENSP00000467141.1:n.96311-47del
ENST00000591111.5:c.91388-47del (TTN)	ENSP00000465570.1:n.91388-47del
ENST00000615779.4:c.91388-47del (TTN)	ENSP00000483597.1:n.91388-47del
NM_001256850.1:c.91388-47del (TTN)	NP_001243779.1:n.91388-47del
NM_001267550.2:c.96311-47del (TTN) MANE Select	NP_001254479.2:n.96311-47del
NM_003319.4:c.69116-47del (TTN)	NP_003310.4:n.69116-47del
NM_133378.4:c.88607-47del (TTN)	NP_596869.4:n.88607-47del
NM_133432.3:c.69491-47del (TTN)	NP_597676.3:n.69491-47del
NM_133437.4:c.69692-47del (TTN)	NP_597681.4:n.69692-47del
NR_038271.1:n.446+20081del (TTN-AS1)
NR_038272.1:n.2043+1356del (TTN-AS1)
XM_011511729.1:c.95408-47del (TTN)	XP_011510031.1:n.95408-47del
XM_011511730.1:c.69302-47del (TTN)	XP_011510032.1:n.69302-47del
XM_011511731.1:c.69161-47del (TTN)	XP_011510033.1:n.69161-47del
XM_017004819.1:c.95204-47del (TTN)	XP_016860308.1:n.95204-47del
XM_017004820.1:c.90602-47del (TTN)	XP_016860309.1:n.90602-47del
XM_017004821.1:c.90599-47del (TTN)	XP_016860310.1:n.90599-47del
XM_017004822.1:c.87641-47del (TTN)	XP_016860311.1:n.87641-47del
XM_017004823.1:c.69257-47del (TTN)	XP_016860312.1:n.69257-47del
XM_024453094.1:c.90752-47del (TTN)	XP_024308862.1:n.90752-47del
XM_024453095.1:c.90749-47del (TTN)	XP_024308863.1:n.90749-47del
XM_024453096.1:c.90182-47del (TTN)	XP_024308864.1:n.90182-47del
XM_024453097.1:c.87524-47del (TTN)	XP_024308865.1:n.87524-47del
XM_024453098.1:c.87443-47del (TTN)	XP_024308866.1:n.87443-47del
XM_024453099.1:c.69206-47del (TTN)	XP_024308867.1:n.69206-47del
XM_024453100.1:c.59060-47del (TTN)	XP_024308868.1:n.59060-47del