Canonical Allele Identifier: CA60972476

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs991386516
• gnomAD v4: 2-178546614-C-T
• MyVariant Identifiers: chr2:g.179411341C>T (hg19) ; chr2:g.178546614C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178546614C>T , CM000664.2:g.178546614C>T	GRCh38
NC_000002.11:g.179411341C>T , CM000664.1:g.179411341C>T	GRCh37
NC_000002.10:g.179119587C>T	NCBI36
NG_011618.3:g.289189G>A , LRG_391:g.289189G>A
NG_051363.1:g.28788C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.87110G>A (TTN)	ENSP00000343764.6:p.Cys29037Tyr
ENST00000342175.11:c.68195G>A (TTN)	ENSP00000340554.6:p.Cys22732Tyr
ENST00000359218.10:c.67994G>A (TTN)	ENSP00000352154.5:p.Cys22665Tyr
ENST00000342175.10:c.68195G>A (TTN)	ENSP00000340554.6:p.Cys22732Tyr
ENST00000342992.10:c.87110G>A (TTN)	ENSP00000343764.6:p.Cys29037Tyr
ENST00000359218.9:c.67994G>A (TTN)	ENSP00000352154.5:p.Cys22665Tyr
ENST00000460472.6:c.67619G>A (TTN)	ENSP00000434586.1:p.Cys22540Tyr
ENST00000589042.5:c.94814G>A (TTN) MANE Select	ENSP00000467141.1:p.Cys31605Tyr
ENST00000591111.5:c.89891G>A (TTN)	ENSP00000465570.1:p.Cys29964Tyr
ENST00000615779.4:c.89891G>A (TTN)	ENSP00000483597.1:p.Cys29964Tyr
NM_001256850.1:c.89891G>A (TTN)	NP_001243779.1:p.Cys29964Tyr
NM_001267550.2:c.94814G>A (TTN) MANE Select	NP_001254479.2:p.Cys31605Tyr
NM_003319.4:c.67619G>A (TTN)	NP_003310.4:p.Cys22540Tyr
NM_133378.4:c.87110G>A (TTN)	NP_596869.4:p.Cys29037Tyr
NM_133432.3:c.67994G>A (TTN)	NP_597676.3:p.Cys22665Tyr
NM_133437.4:c.68195G>A (TTN)	NP_597681.4:p.Cys22732Tyr
NR_038271.1:n.446+22978C>T (TTN-AS1)
NR_038272.1:n.2043+4253C>T (TTN-AS1)
XM_011511729.1:c.93911G>A (TTN)	XP_011510031.1:p.Cys31304Tyr
XM_011511730.1:c.67805G>A (TTN)	XP_011510032.1:p.Cys22602Tyr
XM_011511731.1:c.67664G>A (TTN)	XP_011510033.1:p.Cys22555Tyr
XM_017004819.1:c.93707G>A (TTN)	XP_016860308.1:p.Cys31236Tyr
XM_017004820.1:c.89105G>A (TTN)	XP_016860309.1:p.Cys29702Tyr
XM_017004821.1:c.89102G>A (TTN)	XP_016860310.1:p.Cys29701Tyr
XM_017004822.1:c.86144G>A (TTN)	XP_016860311.1:p.Cys28715Tyr
XM_017004823.1:c.67760G>A (TTN)	XP_016860312.1:p.Cys22587Tyr
XM_024453094.1:c.89255G>A (TTN)	XP_024308862.1:p.Cys29752Tyr
XM_024453095.1:c.89252G>A (TTN)	XP_024308863.1:p.Cys29751Tyr
XM_024453096.1:c.88685G>A (TTN)	XP_024308864.1:p.Cys29562Tyr
XM_024453097.1:c.86027G>A (TTN)	XP_024308865.1:p.Cys28676Tyr
XM_024453098.1:c.85946G>A (TTN)	XP_024308866.1:p.Cys28649Tyr
XM_024453099.1:c.67709G>A (TTN)	XP_024308867.1:p.Cys22570Tyr
XM_024453100.1:c.57563G>A (TTN)	XP_024308868.1:p.Cys19188Tyr