Canonical Allele Identifier: CA1987626

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs750498415
• ExAC: 2:179415789 T / C
• gnomAD v2: 2-179415789-T-C
• gnomAD v4: 2-178551062-T-C
• MyVariant Identifiers: chr2:g.179415789T>C (hg19) ; chr2:g.178551062T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178551062T>C , CM000664.2:g.178551062T>C	GRCh38
NC_000002.11:g.179415789T>C , CM000664.1:g.179415789T>C	GRCh37
NC_000002.10:g.179124035T>C	NCBI36
NG_011618.3:g.284741A>G , LRG_391:g.284741A>G
NG_051363.1:g.33236T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.83765A>G (TTN)	ENSP00000343764.6:p.Asp27922Gly
ENST00000342175.11:c.64850A>G (TTN)	ENSP00000340554.6:p.Asp21617Gly
ENST00000359218.10:c.64649A>G (TTN)	ENSP00000352154.5:p.Asp21550Gly
ENST00000342175.10:c.64850A>G (TTN)	ENSP00000340554.6:p.Asp21617Gly
ENST00000342992.10:c.83765A>G (TTN)	ENSP00000343764.6:p.Asp27922Gly
ENST00000359218.9:c.64649A>G (TTN)	ENSP00000352154.5:p.Asp21550Gly
ENST00000460472.6:c.64274A>G (TTN)	ENSP00000434586.1:p.Asp21425Gly
ENST00000589042.5:c.91469A>G (TTN) MANE Select	ENSP00000467141.1:p.Asp30490Gly
ENST00000591111.5:c.86546A>G (TTN)	ENSP00000465570.1:p.Asp28849Gly
ENST00000615779.4:c.86546A>G (TTN)	ENSP00000483597.1:p.Asp28849Gly
NM_001256850.1:c.86546A>G (TTN)	NP_001243779.1:p.Asp28849Gly
NM_001267550.2:c.91469A>G (TTN) MANE Select	NP_001254479.2:p.Asp30490Gly
NM_003319.4:c.64274A>G (TTN)	NP_003310.4:p.Asp21425Gly
NM_133378.4:c.83765A>G (TTN)	NP_596869.4:p.Asp27922Gly
NM_133432.3:c.64649A>G (TTN)	NP_597676.3:p.Asp21550Gly
NM_133437.4:c.64850A>G (TTN)	NP_597681.4:p.Asp21617Gly
NR_038271.1:n.447-20238T>C (TTN-AS1)
NR_038272.1:n.2043+8701T>C (TTN-AS1)
XM_011511729.1:c.90566A>G (TTN)	XP_011510031.1:p.Asp30189Gly
XM_011511730.1:c.64460A>G (TTN)	XP_011510032.1:p.Asp21487Gly
XM_011511731.1:c.64319A>G (TTN)	XP_011510033.1:p.Asp21440Gly
XM_017004819.1:c.90362A>G (TTN)	XP_016860308.1:p.Asp30121Gly
XM_017004820.1:c.85760A>G (TTN)	XP_016860309.1:p.Asp28587Gly
XM_017004821.1:c.85757A>G (TTN)	XP_016860310.1:p.Asp28586Gly
XM_017004822.1:c.82799A>G (TTN)	XP_016860311.1:p.Asp27600Gly
XM_017004823.1:c.64415A>G (TTN)	XP_016860312.1:p.Asp21472Gly
XM_024453094.1:c.85910A>G (TTN)	XP_024308862.1:p.Asp28637Gly
XM_024453095.1:c.85907A>G (TTN)	XP_024308863.1:p.Asp28636Gly
XM_024453096.1:c.85340A>G (TTN)	XP_024308864.1:p.Asp28447Gly
XM_024453097.1:c.82682A>G (TTN)	XP_024308865.1:p.Asp27561Gly
XM_024453098.1:c.82601A>G (TTN)	XP_024308866.1:p.Asp27534Gly
XM_024453099.1:c.64364A>G (TTN)	XP_024308867.1:p.Asp21455Gly
XM_024453100.1:c.54218A>G (TTN)	XP_024308868.1:p.Asp18073Gly