Canonical Allele Identifier: CA1989794

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs778877994
• ExAC: 2:179433552 A / T
• gnomAD v2: 2-179433552-A-T
• MyVariant Identifiers: chr2:g.179433552A>T (hg19) ; chr2:g.178568825A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178568825A>T , CM000664.2:g.178568825A>T	GRCh38
NC_000002.11:g.179433552A>T , CM000664.1:g.179433552A>T	GRCh37
NC_000002.10:g.179141798A>T	NCBI36
NG_011618.3:g.266978T>A , LRG_391:g.266978T>A
NG_051363.1:g.50999A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.69603T>A (TTN)	ENSP00000343764.6:p.Phe23201Leu
ENST00000342175.11:c.50688T>A (TTN)	ENSP00000340554.6:p.Phe16896Leu
ENST00000359218.10:c.50487T>A (TTN)	ENSP00000352154.5:p.Phe16829Leu
ENST00000342175.10:c.50688T>A (TTN)	ENSP00000340554.6:p.Phe16896Leu
ENST00000342992.10:c.69603T>A (TTN)	ENSP00000343764.6:p.Phe23201Leu
ENST00000359218.9:c.50487T>A (TTN)	ENSP00000352154.5:p.Phe16829Leu
ENST00000460472.6:c.50112T>A (TTN)	ENSP00000434586.1:p.Phe16704Leu
ENST00000589042.5:c.77307T>A (TTN) MANE Select	ENSP00000467141.1:p.Phe25769Leu
ENST00000591111.5:c.72384T>A (TTN)	ENSP00000465570.1:p.Phe24128Leu
ENST00000615779.4:c.72384T>A (TTN)	ENSP00000483597.1:p.Phe24128Leu
NM_001256850.1:c.72384T>A (TTN)	NP_001243779.1:p.Phe24128Leu
NM_001267550.2:c.77307T>A (TTN) MANE Select	NP_001254479.2:p.Phe25769Leu
NM_003319.4:c.50112T>A (TTN)	NP_003310.4:p.Phe16704Leu
NM_133378.4:c.69603T>A (TTN)	NP_596869.4:p.Phe23201Leu
NM_133432.3:c.50487T>A (TTN)	NP_597676.3:p.Phe16829Leu
NM_133437.4:c.50688T>A (TTN)	NP_597681.4:p.Phe16896Leu
NR_038271.1:n.447-2475A>T (TTN-AS1)
NR_038272.1:n.2044-13747A>T (TTN-AS1)
XM_011511729.1:c.76404T>A (TTN)	XP_011510031.1:p.Phe25468Leu
XM_011511730.1:c.50298T>A (TTN)	XP_011510032.1:p.Phe16766Leu
XM_011511731.1:c.50157T>A (TTN)	XP_011510033.1:p.Phe16719Leu
XM_017004819.1:c.76200T>A (TTN)	XP_016860308.1:p.Phe25400Leu
XM_017004820.1:c.71598T>A (TTN)	XP_016860309.1:p.Phe23866Leu
XM_017004821.1:c.71595T>A (TTN)	XP_016860310.1:p.Phe23865Leu
XM_017004822.1:c.68637T>A (TTN)	XP_016860311.1:p.Phe22879Leu
XM_017004823.1:c.50253T>A (TTN)	XP_016860312.1:p.Phe16751Leu
XM_024453094.1:c.71748T>A (TTN)	XP_024308862.1:p.Phe23916Leu
XM_024453095.1:c.71745T>A (TTN)	XP_024308863.1:p.Phe23915Leu
XM_024453096.1:c.71178T>A (TTN)	XP_024308864.1:p.Phe23726Leu
XM_024453097.1:c.68520T>A (TTN)	XP_024308865.1:p.Phe22840Leu
XM_024453098.1:c.68439T>A (TTN)	XP_024308866.1:p.Phe22813Leu
XM_024453099.1:c.50202T>A (TTN)	XP_024308867.1:p.Phe16734Leu
XM_024453100.1:c.40056T>A (TTN)	XP_024308868.1:p.Phe13352Leu