Canonical Allele Identifier: CA349411695

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179396889T>A (hg19) ; chr2:g.178532162T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532162T>A , CM000664.2:g.178532162T>A	GRCh38
NC_000002.11:g.179396889T>A , CM000664.1:g.179396889T>A	GRCh37
NC_000002.10:g.179105135T>A	NCBI36
NG_011618.3:g.303641A>T , LRG_391:g.303641A>T
NG_051363.1:g.14336T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96749A>T (TTN)	ENSP00000343764.6:p.Glu32250Val
ENST00000342175.11:c.77834A>T (TTN)	ENSP00000340554.6:p.Glu25945Val
ENST00000359218.10:c.77633A>T (TTN)	ENSP00000352154.5:p.Glu25878Val
ENST00000342175.10:c.77834A>T (TTN)	ENSP00000340554.6:p.Glu25945Val
ENST00000342992.10:c.96749A>T (TTN)	ENSP00000343764.6:p.Glu32250Val
ENST00000359218.9:c.77633A>T (TTN)	ENSP00000352154.5:p.Glu25878Val
ENST00000460472.6:c.77258A>T (TTN)	ENSP00000434586.1:p.Glu25753Val
ENST00000589042.5:c.104453A>T (TTN) MANE Select	ENSP00000467141.1:p.Glu34818Val
ENST00000591111.5:c.99530A>T (TTN)	ENSP00000465570.1:p.Glu33177Val
ENST00000615779.4:c.99530A>T (TTN)	ENSP00000483597.1:p.Glu33177Val
NM_001256850.1:c.99530A>T (TTN)	NP_001243779.1:p.Glu33177Val
NM_001267550.2:c.104453A>T (TTN) MANE Select	NP_001254479.2:p.Glu34818Val
NM_003319.4:c.77258A>T (TTN)	NP_003310.4:p.Glu25753Val
NM_133378.4:c.96749A>T (TTN)	NP_596869.4:p.Glu32250Val
NM_133432.3:c.77633A>T (TTN)	NP_597676.3:p.Glu25878Val
NM_133437.4:c.77834A>T (TTN)	NP_597681.4:p.Glu25945Val
NR_038271.1:n.446+8526T>A (TTN-AS1)
NR_038272.1:n.220-3570T>A (TTN-AS1)
XM_011511729.1:c.103550A>T (TTN)	XP_011510031.1:p.Glu34517Val
XM_011511730.1:c.77444A>T (TTN)	XP_011510032.1:p.Glu25815Val
XM_011511731.1:c.77303A>T (TTN)	XP_011510033.1:p.Glu25768Val
XM_017004819.1:c.103346A>T (TTN)	XP_016860308.1:p.Glu34449Val
XM_017004820.1:c.98744A>T (TTN)	XP_016860309.1:p.Glu32915Val
XM_017004821.1:c.98741A>T (TTN)	XP_016860310.1:p.Glu32914Val
XM_017004822.1:c.95783A>T (TTN)	XP_016860311.1:p.Glu31928Val
XM_017004823.1:c.77399A>T (TTN)	XP_016860312.1:p.Glu25800Val
XM_024453094.1:c.98894A>T (TTN)	XP_024308862.1:p.Glu32965Val
XM_024453095.1:c.98891A>T (TTN)	XP_024308863.1:p.Glu32964Val
XM_024453096.1:c.98324A>T (TTN)	XP_024308864.1:p.Glu32775Val
XM_024453097.1:c.95666A>T (TTN)	XP_024308865.1:p.Glu31889Val
XM_024453098.1:c.95585A>T (TTN)	XP_024308866.1:p.Glu31862Val
XM_024453099.1:c.77348A>T (TTN)	XP_024308867.1:p.Glu25783Val
XM_024453100.1:c.67202A>T (TTN)	XP_024308868.1:p.Glu22401Val