Canonical Allele Identifier: CA1986863

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs765845110
• ExAC: 2:179409094 A / T
• gnomAD v2: 2-179409094-A-T
• MyVariant Identifiers: chr2:g.179409094A>T (hg19) ; chr2:g.178544367A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544367A>T , CM000664.2:g.178544367A>T	GRCh38
NC_000002.11:g.179409094A>T , CM000664.1:g.179409094A>T	GRCh37
NC_000002.10:g.179117340A>T	NCBI36
NG_011618.3:g.291436T>A , LRG_391:g.291436T>A
NG_051363.1:g.26541A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88158T>A (TTN)	ENSP00000343764.6:p.Asp29386Glu
ENST00000342175.11:c.69243T>A (TTN)	ENSP00000340554.6:p.Asp23081Glu
ENST00000359218.10:c.69042T>A (TTN)	ENSP00000352154.5:p.Asp23014Glu
ENST00000342175.10:c.69243T>A (TTN)	ENSP00000340554.6:p.Asp23081Glu
ENST00000342992.10:c.88158T>A (TTN)	ENSP00000343764.6:p.Asp29386Glu
ENST00000359218.9:c.69042T>A (TTN)	ENSP00000352154.5:p.Asp23014Glu
ENST00000460472.6:c.68667T>A (TTN)	ENSP00000434586.1:p.Asp22889Glu
ENST00000589042.5:c.95862T>A (TTN) MANE Select	ENSP00000467141.1:p.Asp31954Glu
ENST00000591111.5:c.90939T>A (TTN)	ENSP00000465570.1:p.Asp30313Glu
ENST00000615779.4:c.90939T>A (TTN)	ENSP00000483597.1:p.Asp30313Glu
NM_001256850.1:c.90939T>A (TTN)	NP_001243779.1:p.Asp30313Glu
NM_001267550.2:c.95862T>A (TTN) MANE Select	NP_001254479.2:p.Asp31954Glu
NM_003319.4:c.68667T>A (TTN)	NP_003310.4:p.Asp22889Glu
NM_133378.4:c.88158T>A (TTN)	NP_596869.4:p.Asp29386Glu
NM_133432.3:c.69042T>A (TTN)	NP_597676.3:p.Asp23014Glu
NM_133437.4:c.69243T>A (TTN)	NP_597681.4:p.Asp23081Glu
NR_038271.1:n.446+20731A>T (TTN-AS1)
NR_038272.1:n.2043+2006A>T (TTN-AS1)
XM_011511729.1:c.94959T>A (TTN)	XP_011510031.1:p.Asp31653Glu
XM_011511730.1:c.68853T>A (TTN)	XP_011510032.1:p.Asp22951Glu
XM_011511731.1:c.68712T>A (TTN)	XP_011510033.1:p.Asp22904Glu
XM_017004819.1:c.94755T>A (TTN)	XP_016860308.1:p.Asp31585Glu
XM_017004820.1:c.90153T>A (TTN)	XP_016860309.1:p.Asp30051Glu
XM_017004821.1:c.90150T>A (TTN)	XP_016860310.1:p.Asp30050Glu
XM_017004822.1:c.87192T>A (TTN)	XP_016860311.1:p.Asp29064Glu
XM_017004823.1:c.68808T>A (TTN)	XP_016860312.1:p.Asp22936Glu
XM_024453094.1:c.90303T>A (TTN)	XP_024308862.1:p.Asp30101Glu
XM_024453095.1:c.90300T>A (TTN)	XP_024308863.1:p.Asp30100Glu
XM_024453096.1:c.89733T>A (TTN)	XP_024308864.1:p.Asp29911Glu
XM_024453097.1:c.87075T>A (TTN)	XP_024308865.1:p.Asp29025Glu
XM_024453098.1:c.86994T>A (TTN)	XP_024308866.1:p.Asp28998Glu
XM_024453099.1:c.68757T>A (TTN)	XP_024308867.1:p.Asp22919Glu
XM_024453100.1:c.58611T>A (TTN)	XP_024308868.1:p.Asp19537Glu