Canonical Allele Identifier: CA430253850

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179434152G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178569425G>A , CM000664.2:g.178569425G>A	GRCh38
NC_000002.11:g.179434152G>A , CM000664.1:g.179434152G>A	GRCh37
NC_000002.10:g.179142398G>A	NCBI36
NG_011618.3:g.266378C>T , LRG_391:g.266378C>T
NG_051363.1:g.51599G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.69003C>T (TTN)	ENSP00000343764.6:p.Asp23001=
ENST00000342175.11:c.50088C>T (TTN)	ENSP00000340554.6:p.Asp16696=
ENST00000359218.10:c.49887C>T (TTN)	ENSP00000352154.5:p.Asp16629=
ENST00000342175.10:c.50088C>T (TTN)	ENSP00000340554.6:p.Asp16696=
ENST00000342992.10:c.69003C>T (TTN)	ENSP00000343764.6:p.Asp23001=
ENST00000359218.9:c.49887C>T (TTN)	ENSP00000352154.5:p.Asp16629=
ENST00000460472.6:c.49512C>T (TTN)	ENSP00000434586.1:p.Asp16504=
ENST00000589042.5:c.76707C>T (TTN) MANE Select	ENSP00000467141.1:p.Asp25569=
ENST00000591111.5:c.71784C>T (TTN)	ENSP00000465570.1:p.Asp23928=
ENST00000615779.4:c.71784C>T (TTN)	ENSP00000483597.1:p.Asp23928=
NM_001256850.1:c.71784C>T (TTN)	NP_001243779.1:p.Asp23928=
NM_001267550.2:c.76707C>T (TTN) MANE Select	NP_001254479.2:p.Asp25569=
NM_003319.4:c.49512C>T (TTN)	NP_003310.4:p.Asp16504=
NM_133378.4:c.69003C>T (TTN)	NP_596869.4:p.Asp23001=
NM_133432.3:c.49887C>T (TTN)	NP_597676.3:p.Asp16629=
NM_133437.4:c.50088C>T (TTN)	NP_597681.4:p.Asp16696=
NR_038271.1:n.447-1875G>A (TTN-AS1)
NR_038272.1:n.2044-13147G>A (TTN-AS1)
XM_011511729.1:c.75804C>T (TTN)	XP_011510031.1:p.Asp25268=
XM_011511730.1:c.49698C>T (TTN)	XP_011510032.1:p.Asp16566=
XM_011511731.1:c.49557C>T (TTN)	XP_011510033.1:p.Asp16519=
XM_017004819.1:c.75600C>T (TTN)	XP_016860308.1:p.Asp25200=
XM_017004820.1:c.70998C>T (TTN)	XP_016860309.1:p.Asp23666=
XM_017004821.1:c.70995C>T (TTN)	XP_016860310.1:p.Asp23665=
XM_017004822.1:c.68037C>T (TTN)	XP_016860311.1:p.Asp22679=
XM_017004823.1:c.49653C>T (TTN)	XP_016860312.1:p.Asp16551=
XM_024453094.1:c.71148C>T (TTN)	XP_024308862.1:p.Asp23716=
XM_024453095.1:c.71145C>T (TTN)	XP_024308863.1:p.Asp23715=
XM_024453096.1:c.70578C>T (TTN)	XP_024308864.1:p.Asp23526=
XM_024453097.1:c.67920C>T (TTN)	XP_024308865.1:p.Asp22640=
XM_024453098.1:c.67839C>T (TTN)	XP_024308866.1:p.Asp22613=
XM_024453099.1:c.49602C>T (TTN)	XP_024308867.1:p.Asp16534=
XM_024453100.1:c.39456C>T (TTN)	XP_024308868.1:p.Asp13152=