Canonical Allele Identifier: CA349496221

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs780476250
• gnomAD v2: 2-179414566-C-A
• gnomAD v4: 2-178549839-C-A
• MyVariant Identifiers: chr2:g.179414566C>A (hg19) ; chr2:g.178549839C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178549839C>A , CM000664.2:g.178549839C>A	GRCh38
NC_000002.11:g.179414566C>A , CM000664.1:g.179414566C>A	GRCh37
NC_000002.10:g.179122812C>A	NCBI36
NG_011618.3:g.285964G>T , LRG_391:g.285964G>T
NG_051363.1:g.32013C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.84179G>T (TTN)	ENSP00000343764.6:p.Arg28060Ile
ENST00000342175.11:c.65264G>T (TTN)	ENSP00000340554.6:p.Arg21755Ile
ENST00000359218.10:c.65063G>T (TTN)	ENSP00000352154.5:p.Arg21688Ile
ENST00000342175.10:c.65264G>T (TTN)	ENSP00000340554.6:p.Arg21755Ile
ENST00000342992.10:c.84179G>T (TTN)	ENSP00000343764.6:p.Arg28060Ile
ENST00000359218.9:c.65063G>T (TTN)	ENSP00000352154.5:p.Arg21688Ile
ENST00000460472.6:c.64688G>T (TTN)	ENSP00000434586.1:p.Arg21563Ile
ENST00000589042.5:c.91883G>T (TTN) MANE Select	ENSP00000467141.1:p.Arg30628Ile
ENST00000591111.5:c.86960G>T (TTN)	ENSP00000465570.1:p.Arg28987Ile
ENST00000615779.4:c.86960G>T (TTN)	ENSP00000483597.1:p.Arg28987Ile
NM_001256850.1:c.86960G>T (TTN)	NP_001243779.1:p.Arg28987Ile
NM_001267550.2:c.91883G>T (TTN) MANE Select	NP_001254479.2:p.Arg30628Ile
NM_003319.4:c.64688G>T (TTN)	NP_003310.4:p.Arg21563Ile
NM_133378.4:c.84179G>T (TTN)	NP_596869.4:p.Arg28060Ile
NM_133432.3:c.65063G>T (TTN)	NP_597676.3:p.Arg21688Ile
NM_133437.4:c.65264G>T (TTN)	NP_597681.4:p.Arg21755Ile
NR_038271.1:n.447-21461C>A (TTN-AS1)
NR_038272.1:n.2043+7478C>A (TTN-AS1)
XM_011511729.1:c.90980G>T (TTN)	XP_011510031.1:p.Arg30327Ile
XM_011511730.1:c.64874G>T (TTN)	XP_011510032.1:p.Arg21625Ile
XM_011511731.1:c.64733G>T (TTN)	XP_011510033.1:p.Arg21578Ile
XM_017004819.1:c.90776G>T (TTN)	XP_016860308.1:p.Arg30259Ile
XM_017004820.1:c.86174G>T (TTN)	XP_016860309.1:p.Arg28725Ile
XM_017004821.1:c.86171G>T (TTN)	XP_016860310.1:p.Arg28724Ile
XM_017004822.1:c.83213G>T (TTN)	XP_016860311.1:p.Arg27738Ile
XM_017004823.1:c.64829G>T (TTN)	XP_016860312.1:p.Arg21610Ile
XM_024453094.1:c.86324G>T (TTN)	XP_024308862.1:p.Arg28775Ile
XM_024453095.1:c.86321G>T (TTN)	XP_024308863.1:p.Arg28774Ile
XM_024453096.1:c.85754G>T (TTN)	XP_024308864.1:p.Arg28585Ile
XM_024453097.1:c.83096G>T (TTN)	XP_024308865.1:p.Arg27699Ile
XM_024453098.1:c.83015G>T (TTN)	XP_024308866.1:p.Arg27672Ile
XM_024453099.1:c.64778G>T (TTN)	XP_024308867.1:p.Arg21593Ile
XM_024453100.1:c.54632G>T (TTN)	XP_024308868.1:p.Arg18211Ile