Canonical Allele Identifier: CA430253830

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179434146G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178569419G>T , CM000664.2:g.178569419G>T	GRCh38
NC_000002.11:g.179434146G>T , CM000664.1:g.179434146G>T	GRCh37
NC_000002.10:g.179142392G>T	NCBI36
NG_011618.3:g.266384C>A , LRG_391:g.266384C>A
NG_051363.1:g.51593G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.69009C>A (TTN)	ENSP00000343764.6:p.Val23003=
ENST00000342175.11:c.50094C>A (TTN)	ENSP00000340554.6:p.Val16698=
ENST00000359218.10:c.49893C>A (TTN)	ENSP00000352154.5:p.Val16631=
ENST00000342175.10:c.50094C>A (TTN)	ENSP00000340554.6:p.Val16698=
ENST00000342992.10:c.69009C>A (TTN)	ENSP00000343764.6:p.Val23003=
ENST00000359218.9:c.49893C>A (TTN)	ENSP00000352154.5:p.Val16631=
ENST00000460472.6:c.49518C>A (TTN)	ENSP00000434586.1:p.Val16506=
ENST00000589042.5:c.76713C>A (TTN) MANE Select	ENSP00000467141.1:p.Val25571=
ENST00000591111.5:c.71790C>A (TTN)	ENSP00000465570.1:p.Val23930=
ENST00000615779.4:c.71790C>A (TTN)	ENSP00000483597.1:p.Val23930=
NM_001256850.1:c.71790C>A (TTN)	NP_001243779.1:p.Val23930=
NM_001267550.2:c.76713C>A (TTN) MANE Select	NP_001254479.2:p.Val25571=
NM_003319.4:c.49518C>A (TTN)	NP_003310.4:p.Val16506=
NM_133378.4:c.69009C>A (TTN)	NP_596869.4:p.Val23003=
NM_133432.3:c.49893C>A (TTN)	NP_597676.3:p.Val16631=
NM_133437.4:c.50094C>A (TTN)	NP_597681.4:p.Val16698=
NR_038271.1:n.447-1881G>T (TTN-AS1)
NR_038272.1:n.2044-13153G>T (TTN-AS1)
XM_011511729.1:c.75810C>A (TTN)	XP_011510031.1:p.Val25270=
XM_011511730.1:c.49704C>A (TTN)	XP_011510032.1:p.Val16568=
XM_011511731.1:c.49563C>A (TTN)	XP_011510033.1:p.Val16521=
XM_017004819.1:c.75606C>A (TTN)	XP_016860308.1:p.Val25202=
XM_017004820.1:c.71004C>A (TTN)	XP_016860309.1:p.Val23668=
XM_017004821.1:c.71001C>A (TTN)	XP_016860310.1:p.Val23667=
XM_017004822.1:c.68043C>A (TTN)	XP_016860311.1:p.Val22681=
XM_017004823.1:c.49659C>A (TTN)	XP_016860312.1:p.Val16553=
XM_024453094.1:c.71154C>A (TTN)	XP_024308862.1:p.Val23718=
XM_024453095.1:c.71151C>A (TTN)	XP_024308863.1:p.Val23717=
XM_024453096.1:c.70584C>A (TTN)	XP_024308864.1:p.Val23528=
XM_024453097.1:c.67926C>A (TTN)	XP_024308865.1:p.Val22642=
XM_024453098.1:c.67845C>A (TTN)	XP_024308866.1:p.Val22615=
XM_024453099.1:c.49608C>A (TTN)	XP_024308867.1:p.Val16536=
XM_024453100.1:c.39462C>A (TTN)	XP_024308868.1:p.Val13154=