Canonical Allele Identifier: CA1992749

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 404856
• ClinVar RCV Id: RCV000460883 ; RCV000591455 ; RCV002323680 ; RCV003330687
• dbSNP Id: rs200728232
• ExAC: 2:179457964 T / G
• gnomAD v2: 2-179457964-T-G
• gnomAD v3: 2-178593237-T-G
• gnomAD v4: 2-178593237-T-G
• MyVariant Identifiers: chr2:g.179457964T>G (hg19) ; chr2:g.178593237T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178593237T>G , CM000664.2:g.178593237T>G	GRCh38
NC_000002.11:g.179457964T>G , CM000664.1:g.179457964T>G	GRCh37
NC_000002.10:g.179166210T>G	NCBI36
NG_011618.3:g.242566A>C , LRG_391:g.242566A>C
NG_051363.1:g.75411T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.51267A>C (TTN)	ENSP00000343764.6:p.Glu17089Asp
ENST00000342175.11:c.32352A>C (TTN)	ENSP00000340554.6:p.Glu10784Asp
ENST00000359218.10:c.32151A>C (TTN)	ENSP00000352154.5:p.Glu10717Asp
ENST00000342175.10:c.32352A>C (TTN)	ENSP00000340554.6:p.Glu10784Asp
ENST00000342992.10:c.51267A>C (TTN)	ENSP00000343764.6:p.Glu17089Asp
ENST00000359218.9:c.32151A>C (TTN)	ENSP00000352154.5:p.Glu10717Asp
ENST00000460472.6:c.31776A>C (TTN)	ENSP00000434586.1:p.Glu10592Asp
ENST00000589042.5:c.58971A>C (TTN) MANE Select	ENSP00000467141.1:p.Glu19657Asp
ENST00000591111.5:c.54048A>C (TTN)	ENSP00000465570.1:p.Glu18016Asp
ENST00000615779.4:c.54048A>C (TTN)	ENSP00000483597.1:p.Glu18016Asp
NM_001256850.1:c.54048A>C (TTN)	NP_001243779.1:p.Glu18016Asp
NM_001267550.2:c.58971A>C (TTN) MANE Select	NP_001254479.2:p.Glu19657Asp
NM_003319.4:c.31776A>C (TTN)	NP_003310.4:p.Glu10592Asp
NM_133378.4:c.51267A>C (TTN)	NP_596869.4:p.Glu17089Asp
NM_133432.3:c.32151A>C (TTN)	NP_597676.3:p.Glu10717Asp
NM_133437.4:c.32352A>C (TTN)	NP_597681.4:p.Glu10784Asp
NR_038271.1:n.597-4359T>G (TTN-AS1)
NR_038272.1:n.3364+1923T>G (TTN-AS1)
XM_011511729.1:c.58068A>C (TTN)	XP_011510031.1:p.Glu19356Asp
XM_011511730.1:c.31962A>C (TTN)	XP_011510032.1:p.Glu10654Asp
XM_011511731.1:c.31821A>C (TTN)	XP_011510033.1:p.Glu10607Asp
XM_017004819.1:c.57864A>C (TTN)	XP_016860308.1:p.Glu19288Asp
XM_017004820.1:c.53262A>C (TTN)	XP_016860309.1:p.Glu17754Asp
XM_017004821.1:c.53259A>C (TTN)	XP_016860310.1:p.Glu17753Asp
XM_017004822.1:c.50301A>C (TTN)	XP_016860311.1:p.Glu16767Asp
XM_017004823.1:c.31917A>C (TTN)	XP_016860312.1:p.Glu10639Asp
XM_024453094.1:c.53412A>C (TTN)	XP_024308862.1:p.Glu17804Asp
XM_024453095.1:c.53409A>C (TTN)	XP_024308863.1:p.Glu17803Asp
XM_024453096.1:c.52842A>C (TTN)	XP_024308864.1:p.Glu17614Asp
XM_024453097.1:c.50184A>C (TTN)	XP_024308865.1:p.Glu16728Asp
XM_024453098.1:c.50103A>C (TTN)	XP_024308866.1:p.Glu16701Asp
XM_024453099.1:c.31866A>C (TTN)	XP_024308867.1:p.Glu10622Asp
XM_024453100.1:c.21720A>C (TTN)	XP_024308868.1:p.Glu7240Asp