Canonical Allele Identifier: CA1988510

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs778069260
• ExAC: 2:179424473 G / A
• gnomAD v2: 2-179424473-G-A
• gnomAD v3: 2-178559746-G-A
• gnomAD v4: 2-178559746-G-A
• MyVariant Identifiers: chr2:g.179424473G>A (hg19) ; chr2:g.178559746G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178559746G>A , CM000664.2:g.178559746G>A	GRCh38
NC_000002.11:g.179424473G>A , CM000664.1:g.179424473G>A	GRCh37
NC_000002.10:g.179132719G>A	NCBI36
NG_011618.3:g.276057C>T , LRG_391:g.276057C>T
NG_051363.1:g.41920G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.78682C>T (TTN)	ENSP00000343764.6:p.Arg26228Cys
ENST00000342175.11:c.59767C>T (TTN)	ENSP00000340554.6:p.Arg19923Cys
ENST00000359218.10:c.59566C>T (TTN)	ENSP00000352154.5:p.Arg19856Cys
ENST00000342175.10:c.59767C>T (TTN)	ENSP00000340554.6:p.Arg19923Cys
ENST00000342992.10:c.78682C>T (TTN)	ENSP00000343764.6:p.Arg26228Cys
ENST00000359218.9:c.59566C>T (TTN)	ENSP00000352154.5:p.Arg19856Cys
ENST00000460472.6:c.59191C>T (TTN)	ENSP00000434586.1:p.Arg19731Cys
ENST00000589042.5:c.86386C>T (TTN) MANE Select	ENSP00000467141.1:p.Arg28796Cys
ENST00000591111.5:c.81463C>T (TTN)	ENSP00000465570.1:p.Arg27155Cys
ENST00000615779.4:c.81463C>T (TTN)	ENSP00000483597.1:p.Arg27155Cys
NM_001256850.1:c.81463C>T (TTN)	NP_001243779.1:p.Arg27155Cys
NM_001267550.2:c.86386C>T (TTN) MANE Select	NP_001254479.2:p.Arg28796Cys
NM_003319.4:c.59191C>T (TTN)	NP_003310.4:p.Arg19731Cys
NM_133378.4:c.78682C>T (TTN)	NP_596869.4:p.Arg26228Cys
NM_133432.3:c.59566C>T (TTN)	NP_597676.3:p.Arg19856Cys
NM_133437.4:c.59767C>T (TTN)	NP_597681.4:p.Arg19923Cys
NR_038271.1:n.447-11554G>A (TTN-AS1)
NR_038272.1:n.2043+17385G>A (TTN-AS1)
XM_011511729.1:c.85483C>T (TTN)	XP_011510031.1:p.Arg28495Cys
XM_011511730.1:c.59377C>T (TTN)	XP_011510032.1:p.Arg19793Cys
XM_011511731.1:c.59236C>T (TTN)	XP_011510033.1:p.Arg19746Cys
XM_017004819.1:c.85279C>T (TTN)	XP_016860308.1:p.Arg28427Cys
XM_017004820.1:c.80677C>T (TTN)	XP_016860309.1:p.Arg26893Cys
XM_017004821.1:c.80674C>T (TTN)	XP_016860310.1:p.Arg26892Cys
XM_017004822.1:c.77716C>T (TTN)	XP_016860311.1:p.Arg25906Cys
XM_017004823.1:c.59332C>T (TTN)	XP_016860312.1:p.Arg19778Cys
XM_024453094.1:c.80827C>T (TTN)	XP_024308862.1:p.Arg26943Cys
XM_024453095.1:c.80824C>T (TTN)	XP_024308863.1:p.Arg26942Cys
XM_024453096.1:c.80257C>T (TTN)	XP_024308864.1:p.Arg26753Cys
XM_024453097.1:c.77599C>T (TTN)	XP_024308865.1:p.Arg25867Cys
XM_024453098.1:c.77518C>T (TTN)	XP_024308866.1:p.Arg25840Cys
XM_024453099.1:c.59281C>T (TTN)	XP_024308867.1:p.Arg19761Cys
XM_024453100.1:c.49135C>T (TTN)	XP_024308868.1:p.Arg16379Cys