Canonical Allele Identifier: CA1988509

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs181167673
• ExAC: 2:179424472 C / T
• gnomAD v2: 2-179424472-C-T
• gnomAD v3: 2-178559745-C-T
• gnomAD v4: 2-178559745-C-T
• MyVariant Identifiers: chr2:g.179424472C>T (hg19) ; chr2:g.178559745C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178559745C>T , CM000664.2:g.178559745C>T	GRCh38
NC_000002.11:g.179424472C>T , CM000664.1:g.179424472C>T	GRCh37
NC_000002.10:g.179132718C>T	NCBI36
NG_011618.3:g.276058G>A , LRG_391:g.276058G>A
NG_051363.1:g.41919C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.78683G>A (TTN)	ENSP00000343764.6:p.Arg26228His
ENST00000342175.11:c.59768G>A (TTN)	ENSP00000340554.6:p.Arg19923His
ENST00000359218.10:c.59567G>A (TTN)	ENSP00000352154.5:p.Arg19856His
ENST00000342175.10:c.59768G>A (TTN)	ENSP00000340554.6:p.Arg19923His
ENST00000342992.10:c.78683G>A (TTN)	ENSP00000343764.6:p.Arg26228His
ENST00000359218.9:c.59567G>A (TTN)	ENSP00000352154.5:p.Arg19856His
ENST00000460472.6:c.59192G>A (TTN)	ENSP00000434586.1:p.Arg19731His
ENST00000589042.5:c.86387G>A (TTN) MANE Select	ENSP00000467141.1:p.Arg28796His
ENST00000591111.5:c.81464G>A (TTN)	ENSP00000465570.1:p.Arg27155His
ENST00000615779.4:c.81464G>A (TTN)	ENSP00000483597.1:p.Arg27155His
NM_001256850.1:c.81464G>A (TTN)	NP_001243779.1:p.Arg27155His
NM_001267550.2:c.86387G>A (TTN) MANE Select	NP_001254479.2:p.Arg28796His
NM_003319.4:c.59192G>A (TTN)	NP_003310.4:p.Arg19731His
NM_133378.4:c.78683G>A (TTN)	NP_596869.4:p.Arg26228His
NM_133432.3:c.59567G>A (TTN)	NP_597676.3:p.Arg19856His
NM_133437.4:c.59768G>A (TTN)	NP_597681.4:p.Arg19923His
NR_038271.1:n.447-11555C>T (TTN-AS1)
NR_038272.1:n.2043+17384C>T (TTN-AS1)
XM_011511729.1:c.85484G>A (TTN)	XP_011510031.1:p.Arg28495His
XM_011511730.1:c.59378G>A (TTN)	XP_011510032.1:p.Arg19793His
XM_011511731.1:c.59237G>A (TTN)	XP_011510033.1:p.Arg19746His
XM_017004819.1:c.85280G>A (TTN)	XP_016860308.1:p.Arg28427His
XM_017004820.1:c.80678G>A (TTN)	XP_016860309.1:p.Arg26893His
XM_017004821.1:c.80675G>A (TTN)	XP_016860310.1:p.Arg26892His
XM_017004822.1:c.77717G>A (TTN)	XP_016860311.1:p.Arg25906His
XM_017004823.1:c.59333G>A (TTN)	XP_016860312.1:p.Arg19778His
XM_024453094.1:c.80828G>A (TTN)	XP_024308862.1:p.Arg26943His
XM_024453095.1:c.80825G>A (TTN)	XP_024308863.1:p.Arg26942His
XM_024453096.1:c.80258G>A (TTN)	XP_024308864.1:p.Arg26753His
XM_024453097.1:c.77600G>A (TTN)	XP_024308865.1:p.Arg25867His
XM_024453098.1:c.77519G>A (TTN)	XP_024308866.1:p.Arg25840His
XM_024453099.1:c.59282G>A (TTN)	XP_024308867.1:p.Arg19761His
XM_024453100.1:c.49136G>A (TTN)	XP_024308868.1:p.Arg16379His