Canonical Allele Identifier: CA349456996

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179409117C>T (hg19) ; chr2:g.178544390C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544390C>T , CM000664.2:g.178544390C>T	GRCh38
NC_000002.11:g.179409117C>T , CM000664.1:g.179409117C>T	GRCh37
NC_000002.10:g.179117363C>T	NCBI36
NG_011618.3:g.291413G>A , LRG_391:g.291413G>A
NG_051363.1:g.26564C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88135G>A (TTN)	ENSP00000343764.6:p.Glu29379Lys
ENST00000342175.11:c.69220G>A (TTN)	ENSP00000340554.6:p.Glu23074Lys
ENST00000359218.10:c.69019G>A (TTN)	ENSP00000352154.5:p.Glu23007Lys
ENST00000342175.10:c.69220G>A (TTN)	ENSP00000340554.6:p.Glu23074Lys
ENST00000342992.10:c.88135G>A (TTN)	ENSP00000343764.6:p.Glu29379Lys
ENST00000359218.9:c.69019G>A (TTN)	ENSP00000352154.5:p.Glu23007Lys
ENST00000460472.6:c.68644G>A (TTN)	ENSP00000434586.1:p.Glu22882Lys
ENST00000589042.5:c.95839G>A (TTN) MANE Select	ENSP00000467141.1:p.Glu31947Lys
ENST00000591111.5:c.90916G>A (TTN)	ENSP00000465570.1:p.Glu30306Lys
ENST00000615779.4:c.90916G>A (TTN)	ENSP00000483597.1:p.Glu30306Lys
NM_001256850.1:c.90916G>A (TTN)	NP_001243779.1:p.Glu30306Lys
NM_001267550.2:c.95839G>A (TTN) MANE Select	NP_001254479.2:p.Glu31947Lys
NM_003319.4:c.68644G>A (TTN)	NP_003310.4:p.Glu22882Lys
NM_133378.4:c.88135G>A (TTN)	NP_596869.4:p.Glu29379Lys
NM_133432.3:c.69019G>A (TTN)	NP_597676.3:p.Glu23007Lys
NM_133437.4:c.69220G>A (TTN)	NP_597681.4:p.Glu23074Lys
NR_038271.1:n.446+20754C>T (TTN-AS1)
NR_038272.1:n.2043+2029C>T (TTN-AS1)
XM_011511729.1:c.94936G>A (TTN)	XP_011510031.1:p.Glu31646Lys
XM_011511730.1:c.68830G>A (TTN)	XP_011510032.1:p.Glu22944Lys
XM_011511731.1:c.68689G>A (TTN)	XP_011510033.1:p.Glu22897Lys
XM_017004819.1:c.94732G>A (TTN)	XP_016860308.1:p.Glu31578Lys
XM_017004820.1:c.90130G>A (TTN)	XP_016860309.1:p.Glu30044Lys
XM_017004821.1:c.90127G>A (TTN)	XP_016860310.1:p.Glu30043Lys
XM_017004822.1:c.87169G>A (TTN)	XP_016860311.1:p.Glu29057Lys
XM_017004823.1:c.68785G>A (TTN)	XP_016860312.1:p.Glu22929Lys
XM_024453094.1:c.90280G>A (TTN)	XP_024308862.1:p.Glu30094Lys
XM_024453095.1:c.90277G>A (TTN)	XP_024308863.1:p.Glu30093Lys
XM_024453096.1:c.89710G>A (TTN)	XP_024308864.1:p.Glu29904Lys
XM_024453097.1:c.87052G>A (TTN)	XP_024308865.1:p.Glu29018Lys
XM_024453098.1:c.86971G>A (TTN)	XP_024308866.1:p.Glu28991Lys
XM_024453099.1:c.68734G>A (TTN)	XP_024308867.1:p.Glu22912Lys
XM_024453100.1:c.58588G>A (TTN)	XP_024308868.1:p.Glu19530Lys