Canonical Allele Identifier: CA295830

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 179646
• ClinVar RCV Id: RCV001840183 ; RCV001840184 ; RCV001840185 ; RCV001840186 ; RCV002053880
• dbSNP Id: rs727505018
• ExAC: 2:179474397 G / T
• gnomAD v2: 2-179474397-G-T
• gnomAD v3: 2-178609670-G-T
• gnomAD v4: 2-178609670-G-T
• MyVariant Identifiers: chr2:g.179474397G>T (hg19) ; chr2:g.178609670G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178609670G>T , CM000664.2:g.178609670G>T	GRCh38
NC_000002.11:g.179474397G>T , CM000664.1:g.179474397G>T	GRCh37
NC_000002.10:g.179182642G>T	NCBI36
NG_011618.3:g.226133C>A , LRG_391:g.226133C>A
NG_051363.1:g.91844G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.44035+14C>A (TTN)	ENSP00000343764.6:n.44035+14C>A
ENST00000342175.11:c.25120+14C>A (TTN)	ENSP00000340554.6:n.25120+14C>A
ENST00000359218.10:c.24919+14C>A (TTN)	ENSP00000352154.5:n.24919+14C>A
ENST00000342175.10:c.25120+14C>A (TTN)	ENSP00000340554.6:n.25120+14C>A
ENST00000342992.10:c.44035+14C>A (TTN)	ENSP00000343764.6:n.44035+14C>A
ENST00000359218.9:c.24919+14C>A (TTN)	ENSP00000352154.5:n.24919+14C>A
ENST00000460472.6:c.24544+14C>A (TTN)	ENSP00000434586.1:n.24544+14C>A
ENST00000589042.5:c.51739+14C>A (TTN) MANE Select	ENSP00000467141.1:n.51739+14C>A
ENST00000591111.5:c.46816+14C>A (TTN)	ENSP00000465570.1:n.46816+14C>A
ENST00000615779.4:c.46816+14C>A (TTN)	ENSP00000483597.1:n.46816+14C>A
NM_001256850.1:c.46816+14C>A (TTN)	NP_001243779.1:n.46816+14C>A
NM_001267550.2:c.51739+14C>A (TTN) MANE Select	NP_001254479.2:n.51739+14C>A
NM_003319.4:c.24544+14C>A (TTN)	NP_003310.4:n.24544+14C>A
NM_133378.4:c.44035+14C>A (TTN)	NP_596869.4:n.44035+14C>A
NM_133432.3:c.24919+14C>A (TTN)	NP_597676.3:n.24919+14C>A
NM_133437.4:c.25120+14C>A (TTN)	NP_597681.4:n.25120+14C>A
NR_038271.1:n.782+1404G>T (TTN-AS1)
XM_011511729.1:c.50836+14C>A (TTN)	XP_011510031.1:n.50836+14C>A
XM_011511730.1:c.24730+14C>A (TTN)	XP_011510032.1:n.24730+14C>A
XM_011511731.1:c.24589+14C>A (TTN)	XP_011510033.1:n.24589+14C>A
XM_017004819.1:c.50632+14C>A (TTN)	XP_016860308.1:n.50632+14C>A
XM_017004820.1:c.46030+14C>A (TTN)	XP_016860309.1:n.46030+14C>A
XM_017004821.1:c.46027+14C>A (TTN)	XP_016860310.1:n.46027+14C>A
XM_017004822.1:c.43069+14C>A (TTN)	XP_016860311.1:n.43069+14C>A
XM_017004823.1:c.24685+14C>A (TTN)	XP_016860312.1:n.24685+14C>A
XM_024453094.1:c.46180+14C>A (TTN)	XP_024308862.1:n.46180+14C>A
XM_024453095.1:c.46177+14C>A (TTN)	XP_024308863.1:n.46177+14C>A
XM_024453096.1:c.45610+14C>A (TTN)	XP_024308864.1:n.45610+14C>A
XM_024453097.1:c.42952+14C>A (TTN)	XP_024308865.1:n.42952+14C>A
XM_024453098.1:c.42871+14C>A (TTN)	XP_024308866.1:n.42871+14C>A
XM_024453099.1:c.24634+14C>A (TTN)	XP_024308867.1:n.24634+14C>A
XM_024453100.1:c.14488+14C>A (TTN)	XP_024308868.1:n.14488+14C>A