Canonical Allele Identifier: CA349503462

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179416480C>A (hg19) ; chr2:g.178551753C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.83443G>T (TTN)	ENSP00000343764.6:p.Glu27815Ter
ENST00000342175.11:c.64528G>T (TTN)	ENSP00000340554.6:p.Glu21510Ter
ENST00000359218.10:c.64327G>T (TTN)	ENSP00000352154.5:p.Glu21443Ter
ENST00000342175.10:c.64528G>T (TTN)	ENSP00000340554.6:p.Glu21510Ter
ENST00000342992.10:c.83443G>T (TTN)	ENSP00000343764.6:p.Glu27815Ter
ENST00000359218.9:c.64327G>T (TTN)	ENSP00000352154.5:p.Glu21443Ter
ENST00000460472.6:c.63952G>T (TTN)	ENSP00000434586.1:p.Glu21318Ter
ENST00000589042.5:c.91147G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu30383Ter
ENST00000591111.5:c.86224G>T (TTN)	ENSP00000465570.1:p.Glu28742Ter
ENST00000615779.4:c.86224G>T (TTN)	ENSP00000483597.1:p.Glu28742Ter
NM_001256850.1:c.86224G>T (TTN)	NP_001243779.1:p.Glu28742Ter
NM_001267550.2:c.91147G>T (TTN) MANE Select	NP_001254479.2:p.Glu30383Ter
NM_003319.4:c.63952G>T (TTN)	NP_003310.4:p.Glu21318Ter
NM_133378.4:c.83443G>T (TTN)	NP_596869.4:p.Glu27815Ter
NM_133432.3:c.64327G>T (TTN)	NP_597676.3:p.Glu21443Ter
NM_133437.4:c.64528G>T (TTN)	NP_597681.4:p.Glu21510Ter
NR_038271.1:n.447-19547C>A (TTN-AS1)
NR_038272.1:n.2043+9392C>A (TTN-AS1)
XM_011511729.1:c.90244G>T (TTN)	XP_011510031.1:p.Glu30082Ter
XM_011511730.1:c.64138G>T (TTN)	XP_011510032.1:p.Glu21380Ter
XM_011511731.1:c.63997G>T (TTN)	XP_011510033.1:p.Glu21333Ter
XM_017004819.1:c.90040G>T (TTN)	XP_016860308.1:p.Glu30014Ter
XM_017004820.1:c.85438G>T (TTN)	XP_016860309.1:p.Glu28480Ter
XM_017004821.1:c.85435G>T (TTN)	XP_016860310.1:p.Glu28479Ter
XM_017004822.1:c.82477G>T (TTN)	XP_016860311.1:p.Glu27493Ter
XM_017004823.1:c.64093G>T (TTN)	XP_016860312.1:p.Glu21365Ter
XM_024453094.1:c.85588G>T (TTN)	XP_024308862.1:p.Glu28530Ter
XM_024453095.1:c.85585G>T (TTN)	XP_024308863.1:p.Glu28529Ter
XM_024453096.1:c.85018G>T (TTN)	XP_024308864.1:p.Glu28340Ter
XM_024453097.1:c.82360G>T (TTN)	XP_024308865.1:p.Glu27454Ter
XM_024453098.1:c.82279G>T (TTN)	XP_024308866.1:p.Glu27427Ter
XM_024453099.1:c.64042G>T (TTN)	XP_024308867.1:p.Glu21348Ter
XM_024453100.1:c.53896G>T (TTN)	XP_024308868.1:p.Glu17966Ter