Canonical Allele Identifier: CA349460488

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179410295C>T (hg19) ; chr2:g.178545568C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178545568C>T , CM000664.2:g.178545568C>T	GRCh38
NC_000002.11:g.179410295C>T , CM000664.1:g.179410295C>T	GRCh37
NC_000002.10:g.179118541C>T	NCBI36
NG_011618.3:g.290235G>A , LRG_391:g.290235G>A
NG_051363.1:g.27742C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.87838G>A (TTN)	ENSP00000343764.6:p.Glu29280Lys
ENST00000342175.11:c.68923G>A (TTN)	ENSP00000340554.6:p.Glu22975Lys
ENST00000359218.10:c.68722G>A (TTN)	ENSP00000352154.5:p.Glu22908Lys
ENST00000342175.10:c.68923G>A (TTN)	ENSP00000340554.6:p.Glu22975Lys
ENST00000342992.10:c.87838G>A (TTN)	ENSP00000343764.6:p.Glu29280Lys
ENST00000359218.9:c.68722G>A (TTN)	ENSP00000352154.5:p.Glu22908Lys
ENST00000460472.6:c.68347G>A (TTN)	ENSP00000434586.1:p.Glu22783Lys
ENST00000589042.5:c.95542G>A (TTN) MANE Select	ENSP00000467141.1:p.Glu31848Lys
ENST00000591111.5:c.90619G>A (TTN)	ENSP00000465570.1:p.Glu30207Lys
ENST00000615779.4:c.90619G>A (TTN)	ENSP00000483597.1:p.Glu30207Lys
NM_001256850.1:c.90619G>A (TTN)	NP_001243779.1:p.Glu30207Lys
NM_001267550.2:c.95542G>A (TTN) MANE Select	NP_001254479.2:p.Glu31848Lys
NM_003319.4:c.68347G>A (TTN)	NP_003310.4:p.Glu22783Lys
NM_133378.4:c.87838G>A (TTN)	NP_596869.4:p.Glu29280Lys
NM_133432.3:c.68722G>A (TTN)	NP_597676.3:p.Glu22908Lys
NM_133437.4:c.68923G>A (TTN)	NP_597681.4:p.Glu22975Lys
NR_038271.1:n.446+21932C>T (TTN-AS1)
NR_038272.1:n.2043+3207C>T (TTN-AS1)
XM_011511729.1:c.94639G>A (TTN)	XP_011510031.1:p.Glu31547Lys
XM_011511730.1:c.68533G>A (TTN)	XP_011510032.1:p.Glu22845Lys
XM_011511731.1:c.68392G>A (TTN)	XP_011510033.1:p.Glu22798Lys
XM_017004819.1:c.94435G>A (TTN)	XP_016860308.1:p.Glu31479Lys
XM_017004820.1:c.89833G>A (TTN)	XP_016860309.1:p.Glu29945Lys
XM_017004821.1:c.89830G>A (TTN)	XP_016860310.1:p.Glu29944Lys
XM_017004822.1:c.86872G>A (TTN)	XP_016860311.1:p.Glu28958Lys
XM_017004823.1:c.68488G>A (TTN)	XP_016860312.1:p.Glu22830Lys
XM_024453094.1:c.89983G>A (TTN)	XP_024308862.1:p.Glu29995Lys
XM_024453095.1:c.89980G>A (TTN)	XP_024308863.1:p.Glu29994Lys
XM_024453096.1:c.89413G>A (TTN)	XP_024308864.1:p.Glu29805Lys
XM_024453097.1:c.86755G>A (TTN)	XP_024308865.1:p.Glu28919Lys
XM_024453098.1:c.86674G>A (TTN)	XP_024308866.1:p.Glu28892Lys
XM_024453099.1:c.68437G>A (TTN)	XP_024308867.1:p.Glu22813Lys
XM_024453100.1:c.58291G>A (TTN)	XP_024308868.1:p.Glu19431Lys