Canonical Allele Identifier: CA349521015

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 535057
• ClinVar RCV Id: RCV000642821
• dbSNP Id: rs1553659628
• MyVariant Identifiers: chr2:g.179462421C>A (hg19) ; chr2:g.178597694C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178597694C>A , CM000664.2:g.178597694C>A	GRCh38
NC_000002.11:g.179462421C>A , CM000664.1:g.179462421C>A	GRCh37
NC_000002.10:g.179170666C>A	NCBI36
NG_011618.3:g.238109G>T , LRG_391:g.238109G>T
NG_051363.1:g.79868C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.49684G>T (TTN)	ENSP00000343764.6:p.Glu16562Ter
ENST00000342175.11:c.30769G>T (TTN)	ENSP00000340554.6:p.Glu10257Ter
ENST00000359218.10:c.30568G>T (TTN)	ENSP00000352154.5:p.Glu10190Ter
ENST00000342175.10:c.30769G>T (TTN)	ENSP00000340554.6:p.Glu10257Ter
ENST00000342992.10:c.49684G>T (TTN)	ENSP00000343764.6:p.Glu16562Ter
ENST00000359218.9:c.30568G>T (TTN)	ENSP00000352154.5:p.Glu10190Ter
ENST00000460472.6:c.30193G>T (TTN)	ENSP00000434586.1:p.Glu10065Ter
ENST00000589042.5:c.57388G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu19130Ter
ENST00000591111.5:c.52465G>T (TTN)	ENSP00000465570.1:p.Glu17489Ter
ENST00000615779.4:c.52465G>T (TTN)	ENSP00000483597.1:p.Glu17489Ter
NM_001256850.1:c.52465G>T (TTN)	NP_001243779.1:p.Glu17489Ter
NM_001267550.2:c.57388G>T (TTN) MANE Select	NP_001254479.2:p.Glu19130Ter
NM_003319.4:c.30193G>T (TTN)	NP_003310.4:p.Glu10065Ter
NM_133378.4:c.49684G>T (TTN)	NP_596869.4:p.Glu16562Ter
NM_133432.3:c.30568G>T (TTN)	NP_597676.3:p.Glu10190Ter
NM_133437.4:c.30769G>T (TTN)	NP_597681.4:p.Glu10257Ter
NR_038271.1:n.682+13C>A (TTN-AS1)
NR_038272.1:n.3450+13C>A (TTN-AS1)
XM_011511729.1:c.56485G>T (TTN)	XP_011510031.1:p.Glu18829Ter
XM_011511730.1:c.30379G>T (TTN)	XP_011510032.1:p.Glu10127Ter
XM_011511731.1:c.30238G>T (TTN)	XP_011510033.1:p.Glu10080Ter
XM_017004819.1:c.56281G>T (TTN)	XP_016860308.1:p.Glu18761Ter
XM_017004820.1:c.51679G>T (TTN)	XP_016860309.1:p.Glu17227Ter
XM_017004821.1:c.51676G>T (TTN)	XP_016860310.1:p.Glu17226Ter
XM_017004822.1:c.48718G>T (TTN)	XP_016860311.1:p.Glu16240Ter
XM_017004823.1:c.30334G>T (TTN)	XP_016860312.1:p.Glu10112Ter
XM_024453094.1:c.51829G>T (TTN)	XP_024308862.1:p.Glu17277Ter
XM_024453095.1:c.51826G>T (TTN)	XP_024308863.1:p.Glu17276Ter
XM_024453096.1:c.51259G>T (TTN)	XP_024308864.1:p.Glu17087Ter
XM_024453097.1:c.48601G>T (TTN)	XP_024308865.1:p.Glu16201Ter
XM_024453098.1:c.48520G>T (TTN)	XP_024308866.1:p.Glu16174Ter
XM_024453099.1:c.30283G>T (TTN)	XP_024308867.1:p.Glu10095Ter
XM_024453100.1:c.20137G>T (TTN)	XP_024308868.1:p.Glu6713Ter