Canonical Allele Identifier: CA349616281

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179434604T>A (hg19) ; chr2:g.178569877T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178569877T>A , CM000664.2:g.178569877T>A	GRCh38
NC_000002.11:g.179434604T>A , CM000664.1:g.179434604T>A	GRCh37
NC_000002.10:g.179142850T>A	NCBI36
NG_011618.3:g.265926A>T , LRG_391:g.265926A>T
NG_051363.1:g.52051T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.68551A>T (TTN)	ENSP00000343764.6:p.Arg22851Ter
ENST00000342175.11:c.49636A>T (TTN)	ENSP00000340554.6:p.Arg16546Ter
ENST00000359218.10:c.49435A>T (TTN)	ENSP00000352154.5:p.Arg16479Ter
ENST00000342175.10:c.49636A>T (TTN)	ENSP00000340554.6:p.Arg16546Ter
ENST00000342992.10:c.68551A>T (TTN)	ENSP00000343764.6:p.Arg22851Ter
ENST00000359218.9:c.49435A>T (TTN)	ENSP00000352154.5:p.Arg16479Ter
ENST00000460472.6:c.49060A>T (TTN)	ENSP00000434586.1:p.Arg16354Ter
ENST00000589042.5:c.76255A>T (TTN) MANE Select	ENSP00000467141.1:p.Arg25419Ter
ENST00000591111.5:c.71332A>T (TTN)	ENSP00000465570.1:p.Arg23778Ter
ENST00000615779.4:c.71332A>T (TTN)	ENSP00000483597.1:p.Arg23778Ter
NM_001256850.1:c.71332A>T (TTN)	NP_001243779.1:p.Arg23778Ter
NM_001267550.2:c.76255A>T (TTN) MANE Select	NP_001254479.2:p.Arg25419Ter
NM_003319.4:c.49060A>T (TTN)	NP_003310.4:p.Arg16354Ter
NM_133378.4:c.68551A>T (TTN)	NP_596869.4:p.Arg22851Ter
NM_133432.3:c.49435A>T (TTN)	NP_597676.3:p.Arg16479Ter
NM_133437.4:c.49636A>T (TTN)	NP_597681.4:p.Arg16546Ter
NR_038271.1:n.447-1423T>A (TTN-AS1)
NR_038272.1:n.2044-12695T>A (TTN-AS1)
XM_011511729.1:c.75352A>T (TTN)	XP_011510031.1:p.Arg25118Ter
XM_011511730.1:c.49246A>T (TTN)	XP_011510032.1:p.Arg16416Ter
XM_011511731.1:c.49105A>T (TTN)	XP_011510033.1:p.Arg16369Ter
XM_017004819.1:c.75148A>T (TTN)	XP_016860308.1:p.Arg25050Ter
XM_017004820.1:c.70546A>T (TTN)	XP_016860309.1:p.Arg23516Ter
XM_017004821.1:c.70543A>T (TTN)	XP_016860310.1:p.Arg23515Ter
XM_017004822.1:c.67585A>T (TTN)	XP_016860311.1:p.Arg22529Ter
XM_017004823.1:c.49201A>T (TTN)	XP_016860312.1:p.Arg16401Ter
XM_024453094.1:c.70696A>T (TTN)	XP_024308862.1:p.Arg23566Ter
XM_024453095.1:c.70693A>T (TTN)	XP_024308863.1:p.Arg23565Ter
XM_024453096.1:c.70126A>T (TTN)	XP_024308864.1:p.Arg23376Ter
XM_024453097.1:c.67468A>T (TTN)	XP_024308865.1:p.Arg22490Ter
XM_024453098.1:c.67387A>T (TTN)	XP_024308866.1:p.Arg22463Ter
XM_024453099.1:c.49150A>T (TTN)	XP_024308867.1:p.Arg16384Ter
XM_024453100.1:c.39004A>T (TTN)	XP_024308868.1:p.Arg13002Ter