Canonical Allele Identifier: CA349544901

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1216320411
• gnomAD v2: 2-179424566-T-A
• gnomAD v4: 2-178559839-T-A
• MyVariant Identifiers: chr2:g.179424566T>A (hg19) ; chr2:g.178559839T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178559839T>A , CM000664.2:g.178559839T>A	GRCh38
NC_000002.11:g.179424566T>A , CM000664.1:g.179424566T>A	GRCh37
NC_000002.10:g.179132812T>A	NCBI36
NG_011618.3:g.275964A>T , LRG_391:g.275964A>T
NG_051363.1:g.42013T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.78589A>T (TTN)	ENSP00000343764.6:p.Ile26197Phe
ENST00000342175.11:c.59674A>T (TTN)	ENSP00000340554.6:p.Ile19892Phe
ENST00000359218.10:c.59473A>T (TTN)	ENSP00000352154.5:p.Ile19825Phe
ENST00000342175.10:c.59674A>T (TTN)	ENSP00000340554.6:p.Ile19892Phe
ENST00000342992.10:c.78589A>T (TTN)	ENSP00000343764.6:p.Ile26197Phe
ENST00000359218.9:c.59473A>T (TTN)	ENSP00000352154.5:p.Ile19825Phe
ENST00000460472.6:c.59098A>T (TTN)	ENSP00000434586.1:p.Ile19700Phe
ENST00000589042.5:c.86293A>T (TTN) MANE Select	ENSP00000467141.1:p.Ile28765Phe
ENST00000591111.5:c.81370A>T (TTN)	ENSP00000465570.1:p.Ile27124Phe
ENST00000615779.4:c.81370A>T (TTN)	ENSP00000483597.1:p.Ile27124Phe
NM_001256850.1:c.81370A>T (TTN)	NP_001243779.1:p.Ile27124Phe
NM_001267550.2:c.86293A>T (TTN) MANE Select	NP_001254479.2:p.Ile28765Phe
NM_003319.4:c.59098A>T (TTN)	NP_003310.4:p.Ile19700Phe
NM_133378.4:c.78589A>T (TTN)	NP_596869.4:p.Ile26197Phe
NM_133432.3:c.59473A>T (TTN)	NP_597676.3:p.Ile19825Phe
NM_133437.4:c.59674A>T (TTN)	NP_597681.4:p.Ile19892Phe
NR_038271.1:n.447-11461T>A (TTN-AS1)
NR_038272.1:n.2043+17478T>A (TTN-AS1)
XM_011511729.1:c.85390A>T (TTN)	XP_011510031.1:p.Ile28464Phe
XM_011511730.1:c.59284A>T (TTN)	XP_011510032.1:p.Ile19762Phe
XM_011511731.1:c.59143A>T (TTN)	XP_011510033.1:p.Ile19715Phe
XM_017004819.1:c.85186A>T (TTN)	XP_016860308.1:p.Ile28396Phe
XM_017004820.1:c.80584A>T (TTN)	XP_016860309.1:p.Ile26862Phe
XM_017004821.1:c.80581A>T (TTN)	XP_016860310.1:p.Ile26861Phe
XM_017004822.1:c.77623A>T (TTN)	XP_016860311.1:p.Ile25875Phe
XM_017004823.1:c.59239A>T (TTN)	XP_016860312.1:p.Ile19747Phe
XM_024453094.1:c.80734A>T (TTN)	XP_024308862.1:p.Ile26912Phe
XM_024453095.1:c.80731A>T (TTN)	XP_024308863.1:p.Ile26911Phe
XM_024453096.1:c.80164A>T (TTN)	XP_024308864.1:p.Ile26722Phe
XM_024453097.1:c.77506A>T (TTN)	XP_024308865.1:p.Ile25836Phe
XM_024453098.1:c.77425A>T (TTN)	XP_024308866.1:p.Ile25809Phe
XM_024453099.1:c.59188A>T (TTN)	XP_024308867.1:p.Ile19730Phe
XM_024453100.1:c.49042A>T (TTN)	XP_024308868.1:p.Ile16348Phe