Canonical Allele Identifier: CA302737

Gene: TTN

Linked Data

• ClinVar Variation Id: 194143
• ClinVar RCV Id: RCV000174432 ; RCV002485125
• dbSNP Id: rs573756163
• ExAC: 2:179553785 G / A
• gnomAD v2: 2-179553785-G-A
• gnomAD v3: 2-178689058-G-A
• gnomAD v4: 2-178689058-G-A
• MyVariant Identifiers: chr2:g.179553785G>A (hg19) ; chr2:g.178689058G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178689058G>A , CM000664.2:g.178689058G>A	GRCh38
NC_000002.11:g.179553785G>A , CM000664.1:g.179553785G>A	GRCh37
NC_000002.10:g.179262030G>A	NCBI36
NG_011618.3:g.146745C>T , LRG_391:g.146745C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.28358C>T	ENSP00000343764.6:p.Pro9453Leu
ENST00000342175.11:c.13859-46741C>T	ENSP00000340554.6:n.13859-46741C>T
ENST00000359218.10:c.13658-46741C>T	ENSP00000352154.5:n.13658-46741C>T
ENST00000342175.10:c.13859-46741C>T	ENSP00000340554.6:n.13859-46741C>T
ENST00000342992.10:c.28358C>T	ENSP00000343764.6:p.Pro9453Leu
ENST00000359218.9:c.13658-46741C>T	ENSP00000352154.5:n.13658-46741C>T
ENST00000414766.5:c.1724C>T	ENSP00000401501.1:p.Pro575Leu
ENST00000460472.6:c.13283-46741C>T	ENSP00000434586.1:n.13283-46741C>T
ENST00000589042.5:c.32090C>T MANE Select	ENSP00000467141.1:p.Pro10697Leu
ENST00000591111.5:c.31139C>T	ENSP00000465570.1:p.Pro10380Leu
ENST00000615779.4:c.31139C>T	ENSP00000483597.1:p.Pro10380Leu
NM_001256850.1:c.31139C>T	NP_001243779.1:p.Pro10380Leu
NM_001267550.2:c.32090C>T MANE Select	NP_001254479.2:p.Pro10697Leu
NM_003319.4:c.13283-46741C>T	NP_003310.4:n.13283-46741C>T
NM_133378.4:c.28358C>T	NP_596869.4:p.Pro9453Leu
NM_133432.3:c.13658-46741C>T	NP_597676.3:n.13658-46741C>T
NM_133437.4:c.13859-46741C>T	NP_597681.4:n.13859-46741C>T
XM_011511729.1:c.31187C>T	XP_011510031.1:p.Pro10396Leu
XM_011511730.1:c.13469-46741C>T	XP_011510032.1:n.13469-46741C>T
XM_011511731.1:c.13328-46741C>T	XP_011510033.1:n.13328-46741C>T
XM_017004819.1:c.31142C>T	XP_016860308.1:p.Pro10381Leu
XM_017004820.1:c.28361C>T	XP_016860309.1:p.Pro9454Leu
XM_017004821.1:c.28358C>T	XP_016860310.1:p.Pro9453Leu
XM_017004822.1:c.31142C>T	XP_016860311.1:p.Pro10381Leu
XM_017004823.1:c.13424-46741C>T	XP_016860312.1:n.13424-46741C>T
XM_024453094.1:c.31142C>T	XP_024308862.1:p.Pro10381Leu
XM_024453095.1:c.31142C>T	XP_024308863.1:p.Pro10381Leu
XM_024453096.1:c.31142C>T	XP_024308864.1:p.Pro10381Leu
XM_024453097.1:c.30898+755C>T	XP_024308865.1:n.30898+755C>T
XM_024453098.1:c.30898+755C>T	XP_024308866.1:n.30898+755C>T
XM_024453099.1:c.13424-46741C>T	XP_024308867.1:n.13424-46741C>T