Canonical Allele Identifier: CA349421653

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179443660C>A (hg19) ; chr2:g.178578933C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178578933C>A , CM000664.2:g.178578933C>A	GRCh38
NC_000002.11:g.179443660C>A , CM000664.1:g.179443660C>A	GRCh37
NC_000002.10:g.179151906C>A	NCBI36
NG_011618.3:g.256870G>T , LRG_391:g.256870G>T
NG_051363.1:g.61107C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.60393G>T (TTN)	ENSP00000343764.6:p.Gln20131His
ENST00000342175.11:c.41478G>T (TTN)	ENSP00000340554.6:p.Gln13826His
ENST00000359218.10:c.41277G>T (TTN)	ENSP00000352154.5:p.Gln13759His
ENST00000342175.10:c.41478G>T (TTN)	ENSP00000340554.6:p.Gln13826His
ENST00000342992.10:c.60393G>T (TTN)	ENSP00000343764.6:p.Gln20131His
ENST00000359218.9:c.41277G>T (TTN)	ENSP00000352154.5:p.Gln13759His
ENST00000460472.6:c.40902G>T (TTN)	ENSP00000434586.1:p.Gln13634His
ENST00000589042.5:c.68097G>T (TTN) MANE Select	ENSP00000467141.1:p.Gln22699His
ENST00000591111.5:c.63174G>T (TTN)	ENSP00000465570.1:p.Gln21058His
ENST00000615779.4:c.63174G>T (TTN)	ENSP00000483597.1:p.Gln21058His
NM_001256850.1:c.63174G>T (TTN)	NP_001243779.1:p.Gln21058His
NM_001267550.2:c.68097G>T (TTN) MANE Select	NP_001254479.2:p.Gln22699His
NM_003319.4:c.40902G>T (TTN)	NP_003310.4:p.Gln13634His
NM_133378.4:c.60393G>T (TTN)	NP_596869.4:p.Gln20131His
NM_133432.3:c.41277G>T (TTN)	NP_597676.3:p.Gln13759His
NM_133437.4:c.41478G>T (TTN)	NP_597681.4:p.Gln13826His
NR_038271.1:n.596+7484C>A (TTN-AS1)
NR_038272.1:n.2044-3639C>A (TTN-AS1)
XM_011511729.1:c.67194G>T (TTN)	XP_011510031.1:p.Gln22398His
XM_011511730.1:c.41088G>T (TTN)	XP_011510032.1:p.Gln13696His
XM_011511731.1:c.40947G>T (TTN)	XP_011510033.1:p.Gln13649His
XM_017004819.1:c.66990G>T (TTN)	XP_016860308.1:p.Gln22330His
XM_017004820.1:c.62388G>T (TTN)	XP_016860309.1:p.Gln20796His
XM_017004821.1:c.62385G>T (TTN)	XP_016860310.1:p.Gln20795His
XM_017004822.1:c.59427G>T (TTN)	XP_016860311.1:p.Gln19809His
XM_017004823.1:c.41043G>T (TTN)	XP_016860312.1:p.Gln13681His
XM_024453094.1:c.62538G>T (TTN)	XP_024308862.1:p.Gln20846His
XM_024453095.1:c.62535G>T (TTN)	XP_024308863.1:p.Gln20845His
XM_024453096.1:c.61968G>T (TTN)	XP_024308864.1:p.Gln20656His
XM_024453097.1:c.59310G>T (TTN)	XP_024308865.1:p.Gln19770His
XM_024453098.1:c.59229G>T (TTN)	XP_024308866.1:p.Gln19743His
XM_024453099.1:c.40992G>T (TTN)	XP_024308867.1:p.Gln13664His
XM_024453100.1:c.30846G>T (TTN)	XP_024308868.1:p.Gln10282His