Canonical Allele Identifier: CA1993872

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1929610
• ClinVar RCV Id: RCV002618710
• dbSNP Id: rs760630783
• ExAC: 2:179472424 G / T
• gnomAD v2: 2-179472424-G-T
• gnomAD v3: 2-178607697-G-T
• gnomAD v4: 2-178607697-G-T
• MyVariant Identifiers: chr2:g.179472424G>T (hg19) ; chr2:g.178607697G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178607697G>T , CM000664.2:g.178607697G>T	GRCh38
NC_000002.11:g.179472424G>T , CM000664.1:g.179472424G>T	GRCh37
NC_000002.10:g.179180669G>T	NCBI36
NG_011618.3:g.228106C>A , LRG_391:g.228106C>A
NG_051363.1:g.89871G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.45299-12C>A (TTN)	ENSP00000343764.6:n.45299-12C>A
ENST00000342175.11:c.26384-12C>A (TTN)	ENSP00000340554.6:n.26384-12C>A
ENST00000359218.10:c.26183-12C>A (TTN)	ENSP00000352154.5:n.26183-12C>A
ENST00000342175.10:c.26384-12C>A (TTN)	ENSP00000340554.6:n.26384-12C>A
ENST00000342992.10:c.45299-12C>A (TTN)	ENSP00000343764.6:n.45299-12C>A
ENST00000359218.9:c.26183-12C>A (TTN)	ENSP00000352154.5:n.26183-12C>A
ENST00000460472.6:c.25808-12C>A (TTN)	ENSP00000434586.1:n.25808-12C>A
ENST00000589042.5:c.53003-12C>A (TTN) MANE Select	ENSP00000467141.1:n.53003-12C>A
ENST00000591111.5:c.48080-12C>A (TTN)	ENSP00000465570.1:n.48080-12C>A
ENST00000615779.4:c.48080-12C>A (TTN)	ENSP00000483597.1:n.48080-12C>A
NM_001256850.1:c.48080-12C>A (TTN)	NP_001243779.1:n.48080-12C>A
NM_001267550.2:c.53003-12C>A (TTN) MANE Select	NP_001254479.2:n.53003-12C>A
NM_003319.4:c.25808-12C>A (TTN)	NP_003310.4:n.25808-12C>A
NM_133378.4:c.45299-12C>A (TTN)	NP_596869.4:n.45299-12C>A
NM_133432.3:c.26183-12C>A (TTN)	NP_597676.3:n.26183-12C>A
NM_133437.4:c.26384-12C>A (TTN)	NP_597681.4:n.26384-12C>A
NR_038271.1:n.683-470G>T (TTN-AS1)
XM_011511729.1:c.52100-12C>A (TTN)	XP_011510031.1:n.52100-12C>A
XM_011511730.1:c.25994-12C>A (TTN)	XP_011510032.1:n.25994-12C>A
XM_011511731.1:c.25853-12C>A (TTN)	XP_011510033.1:n.25853-12C>A
XM_017004819.1:c.51896-12C>A (TTN)	XP_016860308.1:n.51896-12C>A
XM_017004820.1:c.47294-12C>A (TTN)	XP_016860309.1:n.47294-12C>A
XM_017004821.1:c.47291-12C>A (TTN)	XP_016860310.1:n.47291-12C>A
XM_017004822.1:c.44333-12C>A (TTN)	XP_016860311.1:n.44333-12C>A
XM_017004823.1:c.25949-12C>A (TTN)	XP_016860312.1:n.25949-12C>A
XM_024453094.1:c.47444-12C>A (TTN)	XP_024308862.1:n.47444-12C>A
XM_024453095.1:c.47441-12C>A (TTN)	XP_024308863.1:n.47441-12C>A
XM_024453096.1:c.46874-12C>A (TTN)	XP_024308864.1:n.46874-12C>A
XM_024453097.1:c.44216-12C>A (TTN)	XP_024308865.1:n.44216-12C>A
XM_024453098.1:c.44135-12C>A (TTN)	XP_024308866.1:n.44135-12C>A
XM_024453099.1:c.25898-12C>A (TTN)	XP_024308867.1:n.25898-12C>A
XM_024453100.1:c.15752-12C>A (TTN)	XP_024308868.1:n.15752-12C>A