Canonical Allele Identifier: CA349496790

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs2050577486
• MyVariant Identifiers: chr2:g.179457801C>A (hg19) ; chr2:g.178593074C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178593074C>A , CM000664.2:g.178593074C>A	GRCh38
NC_000002.11:g.179457801C>A , CM000664.1:g.179457801C>A	GRCh37
NC_000002.10:g.179166047C>A	NCBI36
NG_011618.3:g.242729G>T , LRG_391:g.242729G>T
NG_051363.1:g.75248C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.51341G>T (TTN)	ENSP00000343764.6:p.Ser17114Ile
ENST00000342175.11:c.32426G>T (TTN)	ENSP00000340554.6:p.Ser10809Ile
ENST00000359218.10:c.32225G>T (TTN)	ENSP00000352154.5:p.Ser10742Ile
ENST00000342175.10:c.32426G>T (TTN)	ENSP00000340554.6:p.Ser10809Ile
ENST00000342992.10:c.51341G>T (TTN)	ENSP00000343764.6:p.Ser17114Ile
ENST00000359218.9:c.32225G>T (TTN)	ENSP00000352154.5:p.Ser10742Ile
ENST00000460472.6:c.31850G>T (TTN)	ENSP00000434586.1:p.Ser10617Ile
ENST00000589042.5:c.59045G>T (TTN) MANE Select	ENSP00000467141.1:p.Ser19682Ile
ENST00000591111.5:c.54122G>T (TTN)	ENSP00000465570.1:p.Ser18041Ile
ENST00000615779.4:c.54122G>T (TTN)	ENSP00000483597.1:p.Ser18041Ile
NM_001256850.1:c.54122G>T (TTN)	NP_001243779.1:p.Ser18041Ile
NM_001267550.2:c.59045G>T (TTN) MANE Select	NP_001254479.2:p.Ser19682Ile
NM_003319.4:c.31850G>T (TTN)	NP_003310.4:p.Ser10617Ile
NM_133378.4:c.51341G>T (TTN)	NP_596869.4:p.Ser17114Ile
NM_133432.3:c.32225G>T (TTN)	NP_597676.3:p.Ser10742Ile
NM_133437.4:c.32426G>T (TTN)	NP_597681.4:p.Ser10809Ile
NR_038271.1:n.597-4522C>A (TTN-AS1)
NR_038272.1:n.3364+1760C>A (TTN-AS1)
XM_011511729.1:c.58142G>T (TTN)	XP_011510031.1:p.Ser19381Ile
XM_011511730.1:c.32036G>T (TTN)	XP_011510032.1:p.Ser10679Ile
XM_011511731.1:c.31895G>T (TTN)	XP_011510033.1:p.Ser10632Ile
XM_017004819.1:c.57938G>T (TTN)	XP_016860308.1:p.Ser19313Ile
XM_017004820.1:c.53336G>T (TTN)	XP_016860309.1:p.Ser17779Ile
XM_017004821.1:c.53333G>T (TTN)	XP_016860310.1:p.Ser17778Ile
XM_017004822.1:c.50375G>T (TTN)	XP_016860311.1:p.Ser16792Ile
XM_017004823.1:c.31991G>T (TTN)	XP_016860312.1:p.Ser10664Ile
XM_024453094.1:c.53486G>T (TTN)	XP_024308862.1:p.Ser17829Ile
XM_024453095.1:c.53483G>T (TTN)	XP_024308863.1:p.Ser17828Ile
XM_024453096.1:c.52916G>T (TTN)	XP_024308864.1:p.Ser17639Ile
XM_024453097.1:c.50258G>T (TTN)	XP_024308865.1:p.Ser16753Ile
XM_024453098.1:c.50177G>T (TTN)	XP_024308866.1:p.Ser16726Ile
XM_024453099.1:c.31940G>T (TTN)	XP_024308867.1:p.Ser10647Ile
XM_024453100.1:c.21794G>T (TTN)	XP_024308868.1:p.Ser7265Ile