Canonical Allele Identifier: CA349581333

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 2438048
• ClinVar RCV Id: RCV003137213
• gnomAD v4: 2-178564617-T-A
• MyVariant Identifiers: chr2:g.179429344T>A (hg19) ; chr2:g.178564617T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178564617T>A , CM000664.2:g.178564617T>A	GRCh38
NC_000002.11:g.179429344T>A , CM000664.1:g.179429344T>A	GRCh37
NC_000002.10:g.179137590T>A	NCBI36
NG_011618.3:g.271186A>T , LRG_391:g.271186A>T
NG_051363.1:g.46791T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.73811A>T (TTN)	ENSP00000343764.6:p.Asp24604Val
ENST00000342175.11:c.54896A>T (TTN)	ENSP00000340554.6:p.Asp18299Val
ENST00000359218.10:c.54695A>T (TTN)	ENSP00000352154.5:p.Asp18232Val
ENST00000342175.10:c.54896A>T (TTN)	ENSP00000340554.6:p.Asp18299Val
ENST00000342992.10:c.73811A>T (TTN)	ENSP00000343764.6:p.Asp24604Val
ENST00000359218.9:c.54695A>T (TTN)	ENSP00000352154.5:p.Asp18232Val
ENST00000460472.6:c.54320A>T (TTN)	ENSP00000434586.1:p.Asp18107Val
ENST00000589042.5:c.81515A>T (TTN) MANE Select	ENSP00000467141.1:p.Asp27172Val
ENST00000591111.5:c.76592A>T (TTN)	ENSP00000465570.1:p.Asp25531Val
ENST00000615779.4:c.76592A>T (TTN)	ENSP00000483597.1:p.Asp25531Val
NM_001256850.1:c.76592A>T (TTN)	NP_001243779.1:p.Asp25531Val
NM_001267550.2:c.81515A>T (TTN) MANE Select	NP_001254479.2:p.Asp27172Val
NM_003319.4:c.54320A>T (TTN)	NP_003310.4:p.Asp18107Val
NM_133378.4:c.73811A>T (TTN)	NP_596869.4:p.Asp24604Val
NM_133432.3:c.54695A>T (TTN)	NP_597676.3:p.Asp18232Val
NM_133437.4:c.54896A>T (TTN)	NP_597681.4:p.Asp18299Val
NR_038271.1:n.447-6683T>A (TTN-AS1)
NR_038272.1:n.2044-17955T>A (TTN-AS1)
XM_011511729.1:c.80612A>T (TTN)	XP_011510031.1:p.Asp26871Val
XM_011511730.1:c.54506A>T (TTN)	XP_011510032.1:p.Asp18169Val
XM_011511731.1:c.54365A>T (TTN)	XP_011510033.1:p.Asp18122Val
XM_017004819.1:c.80408A>T (TTN)	XP_016860308.1:p.Asp26803Val
XM_017004820.1:c.75806A>T (TTN)	XP_016860309.1:p.Asp25269Val
XM_017004821.1:c.75803A>T (TTN)	XP_016860310.1:p.Asp25268Val
XM_017004822.1:c.72845A>T (TTN)	XP_016860311.1:p.Asp24282Val
XM_017004823.1:c.54461A>T (TTN)	XP_016860312.1:p.Asp18154Val
XM_024453094.1:c.75956A>T (TTN)	XP_024308862.1:p.Asp25319Val
XM_024453095.1:c.75953A>T (TTN)	XP_024308863.1:p.Asp25318Val
XM_024453096.1:c.75386A>T (TTN)	XP_024308864.1:p.Asp25129Val
XM_024453097.1:c.72728A>T (TTN)	XP_024308865.1:p.Asp24243Val
XM_024453098.1:c.72647A>T (TTN)	XP_024308866.1:p.Asp24216Val
XM_024453099.1:c.54410A>T (TTN)	XP_024308867.1:p.Asp18137Val
XM_024453100.1:c.44264A>T (TTN)	XP_024308868.1:p.Asp14755Val