Canonical Allele Identifier: CA1987683

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs749647536
• ExAC: 2:179416480 C / G
• gnomAD v2: 2-179416480-C-G
• gnomAD v4: 2-178551753-C-G
• MyVariant Identifiers: chr2:g.179416480C>G (hg19) ; chr2:g.178551753C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178551753C>G , CM000664.2:g.178551753C>G	GRCh38
NC_000002.11:g.179416480C>G , CM000664.1:g.179416480C>G	GRCh37
NC_000002.10:g.179124726C>G	NCBI36
NG_011618.3:g.284050G>C , LRG_391:g.284050G>C
NG_051363.1:g.33927C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.83443G>C (TTN)	ENSP00000343764.6:p.Glu27815Gln
ENST00000342175.11:c.64528G>C (TTN)	ENSP00000340554.6:p.Glu21510Gln
ENST00000359218.10:c.64327G>C (TTN)	ENSP00000352154.5:p.Glu21443Gln
ENST00000342175.10:c.64528G>C (TTN)	ENSP00000340554.6:p.Glu21510Gln
ENST00000342992.10:c.83443G>C (TTN)	ENSP00000343764.6:p.Glu27815Gln
ENST00000359218.9:c.64327G>C (TTN)	ENSP00000352154.5:p.Glu21443Gln
ENST00000460472.6:c.63952G>C (TTN)	ENSP00000434586.1:p.Glu21318Gln
ENST00000589042.5:c.91147G>C (TTN) MANE Select	ENSP00000467141.1:p.Glu30383Gln
ENST00000591111.5:c.86224G>C (TTN)	ENSP00000465570.1:p.Glu28742Gln
ENST00000615779.4:c.86224G>C (TTN)	ENSP00000483597.1:p.Glu28742Gln
NM_001256850.1:c.86224G>C (TTN)	NP_001243779.1:p.Glu28742Gln
NM_001267550.2:c.91147G>C (TTN) MANE Select	NP_001254479.2:p.Glu30383Gln
NM_003319.4:c.63952G>C (TTN)	NP_003310.4:p.Glu21318Gln
NM_133378.4:c.83443G>C (TTN)	NP_596869.4:p.Glu27815Gln
NM_133432.3:c.64327G>C (TTN)	NP_597676.3:p.Glu21443Gln
NM_133437.4:c.64528G>C (TTN)	NP_597681.4:p.Glu21510Gln
NR_038271.1:n.447-19547C>G (TTN-AS1)
NR_038272.1:n.2043+9392C>G (TTN-AS1)
XM_011511729.1:c.90244G>C (TTN)	XP_011510031.1:p.Glu30082Gln
XM_011511730.1:c.64138G>C (TTN)	XP_011510032.1:p.Glu21380Gln
XM_011511731.1:c.63997G>C (TTN)	XP_011510033.1:p.Glu21333Gln
XM_017004819.1:c.90040G>C (TTN)	XP_016860308.1:p.Glu30014Gln
XM_017004820.1:c.85438G>C (TTN)	XP_016860309.1:p.Glu28480Gln
XM_017004821.1:c.85435G>C (TTN)	XP_016860310.1:p.Glu28479Gln
XM_017004822.1:c.82477G>C (TTN)	XP_016860311.1:p.Glu27493Gln
XM_017004823.1:c.64093G>C (TTN)	XP_016860312.1:p.Glu21365Gln
XM_024453094.1:c.85588G>C (TTN)	XP_024308862.1:p.Glu28530Gln
XM_024453095.1:c.85585G>C (TTN)	XP_024308863.1:p.Glu28529Gln
XM_024453096.1:c.85018G>C (TTN)	XP_024308864.1:p.Glu28340Gln
XM_024453097.1:c.82360G>C (TTN)	XP_024308865.1:p.Glu27454Gln
XM_024453098.1:c.82279G>C (TTN)	XP_024308866.1:p.Glu27427Gln
XM_024453099.1:c.64042G>C (TTN)	XP_024308867.1:p.Glu21348Gln
XM_024453100.1:c.53896G>C (TTN)	XP_024308868.1:p.Glu17966Gln