Canonical Allele Identifier: CA349600975

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179432035T>A (hg19) ; chr2:g.178567308T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178567308T>A , CM000664.2:g.178567308T>A	GRCh38
NC_000002.11:g.179432035T>A , CM000664.1:g.179432035T>A	GRCh37
NC_000002.10:g.179140281T>A	NCBI36
NG_011618.3:g.268495A>T , LRG_391:g.268495A>T
NG_051363.1:g.49482T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.71120A>T (TTN)	ENSP00000343764.6:p.Lys23707Met
ENST00000342175.11:c.52205A>T (TTN)	ENSP00000340554.6:p.Lys17402Met
ENST00000359218.10:c.52004A>T (TTN)	ENSP00000352154.5:p.Lys17335Met
ENST00000342175.10:c.52205A>T (TTN)	ENSP00000340554.6:p.Lys17402Met
ENST00000342992.10:c.71120A>T (TTN)	ENSP00000343764.6:p.Lys23707Met
ENST00000359218.9:c.52004A>T (TTN)	ENSP00000352154.5:p.Lys17335Met
ENST00000460472.6:c.51629A>T (TTN)	ENSP00000434586.1:p.Lys17210Met
ENST00000589042.5:c.78824A>T (TTN) MANE Select	ENSP00000467141.1:p.Lys26275Met
ENST00000591111.5:c.73901A>T (TTN)	ENSP00000465570.1:p.Lys24634Met
ENST00000615779.4:c.73901A>T (TTN)	ENSP00000483597.1:p.Lys24634Met
NM_001256850.1:c.73901A>T (TTN)	NP_001243779.1:p.Lys24634Met
NM_001267550.2:c.78824A>T (TTN) MANE Select	NP_001254479.2:p.Lys26275Met
NM_003319.4:c.51629A>T (TTN)	NP_003310.4:p.Lys17210Met
NM_133378.4:c.71120A>T (TTN)	NP_596869.4:p.Lys23707Met
NM_133432.3:c.52004A>T (TTN)	NP_597676.3:p.Lys17335Met
NM_133437.4:c.52205A>T (TTN)	NP_597681.4:p.Lys17402Met
NR_038271.1:n.447-3992T>A (TTN-AS1)
NR_038272.1:n.2044-15264T>A (TTN-AS1)
XM_011511729.1:c.77921A>T (TTN)	XP_011510031.1:p.Lys25974Met
XM_011511730.1:c.51815A>T (TTN)	XP_011510032.1:p.Lys17272Met
XM_011511731.1:c.51674A>T (TTN)	XP_011510033.1:p.Lys17225Met
XM_017004819.1:c.77717A>T (TTN)	XP_016860308.1:p.Lys25906Met
XM_017004820.1:c.73115A>T (TTN)	XP_016860309.1:p.Lys24372Met
XM_017004821.1:c.73112A>T (TTN)	XP_016860310.1:p.Lys24371Met
XM_017004822.1:c.70154A>T (TTN)	XP_016860311.1:p.Lys23385Met
XM_017004823.1:c.51770A>T (TTN)	XP_016860312.1:p.Lys17257Met
XM_024453094.1:c.73265A>T (TTN)	XP_024308862.1:p.Lys24422Met
XM_024453095.1:c.73262A>T (TTN)	XP_024308863.1:p.Lys24421Met
XM_024453096.1:c.72695A>T (TTN)	XP_024308864.1:p.Lys24232Met
XM_024453097.1:c.70037A>T (TTN)	XP_024308865.1:p.Lys23346Met
XM_024453098.1:c.69956A>T (TTN)	XP_024308866.1:p.Lys23319Met
XM_024453099.1:c.51719A>T (TTN)	XP_024308867.1:p.Lys17240Met
XM_024453100.1:c.41573A>T (TTN)	XP_024308868.1:p.Lys13858Met