Canonical Allele Identifier: CA349456142

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179409051C>A (hg19) ; chr2:g.178544324C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544324C>A , CM000664.2:g.178544324C>A	GRCh38
NC_000002.11:g.179409051C>A , CM000664.1:g.179409051C>A	GRCh37
NC_000002.10:g.179117297C>A	NCBI36
NG_011618.3:g.291479G>T , LRG_391:g.291479G>T
NG_051363.1:g.26498C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.88201G>T (TTN)	ENSP00000343764.6:p.Glu29401Ter
ENST00000342175.11:c.69286G>T (TTN)	ENSP00000340554.6:p.Glu23096Ter
ENST00000359218.10:c.69085G>T (TTN)	ENSP00000352154.5:p.Glu23029Ter
ENST00000342175.10:c.69286G>T (TTN)	ENSP00000340554.6:p.Glu23096Ter
ENST00000342992.10:c.88201G>T (TTN)	ENSP00000343764.6:p.Glu29401Ter
ENST00000359218.9:c.69085G>T (TTN)	ENSP00000352154.5:p.Glu23029Ter
ENST00000460472.6:c.68710G>T (TTN)	ENSP00000434586.1:p.Glu22904Ter
ENST00000589042.5:c.95905G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu31969Ter
ENST00000591111.5:c.90982G>T (TTN)	ENSP00000465570.1:p.Glu30328Ter
ENST00000615779.4:c.90982G>T (TTN)	ENSP00000483597.1:p.Glu30328Ter
NM_001256850.1:c.90982G>T (TTN)	NP_001243779.1:p.Glu30328Ter
NM_001267550.2:c.95905G>T (TTN) MANE Select	NP_001254479.2:p.Glu31969Ter
NM_003319.4:c.68710G>T (TTN)	NP_003310.4:p.Glu22904Ter
NM_133378.4:c.88201G>T (TTN)	NP_596869.4:p.Glu29401Ter
NM_133432.3:c.69085G>T (TTN)	NP_597676.3:p.Glu23029Ter
NM_133437.4:c.69286G>T (TTN)	NP_597681.4:p.Glu23096Ter
NR_038271.1:n.446+20688C>A (TTN-AS1)
NR_038272.1:n.2043+1963C>A (TTN-AS1)
XM_011511729.1:c.95002G>T (TTN)	XP_011510031.1:p.Glu31668Ter
XM_011511730.1:c.68896G>T (TTN)	XP_011510032.1:p.Glu22966Ter
XM_011511731.1:c.68755G>T (TTN)	XP_011510033.1:p.Glu22919Ter
XM_017004819.1:c.94798G>T (TTN)	XP_016860308.1:p.Glu31600Ter
XM_017004820.1:c.90196G>T (TTN)	XP_016860309.1:p.Glu30066Ter
XM_017004821.1:c.90193G>T (TTN)	XP_016860310.1:p.Glu30065Ter
XM_017004822.1:c.87235G>T (TTN)	XP_016860311.1:p.Glu29079Ter
XM_017004823.1:c.68851G>T (TTN)	XP_016860312.1:p.Glu22951Ter
XM_024453094.1:c.90346G>T (TTN)	XP_024308862.1:p.Glu30116Ter
XM_024453095.1:c.90343G>T (TTN)	XP_024308863.1:p.Glu30115Ter
XM_024453096.1:c.89776G>T (TTN)	XP_024308864.1:p.Glu29926Ter
XM_024453097.1:c.87118G>T (TTN)	XP_024308865.1:p.Glu29040Ter
XM_024453098.1:c.87037G>T (TTN)	XP_024308866.1:p.Glu29013Ter
XM_024453099.1:c.68800G>T (TTN)	XP_024308867.1:p.Glu22934Ter
XM_024453100.1:c.58654G>T (TTN)	XP_024308868.1:p.Glu19552Ter