Canonical Allele Identifier: CA349611790

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 519056
• ClinVar RCV Id: RCV000621085 ; RCV001231073
• dbSNP Id: rs765997807
• gnomAD v4: 2-178568905-C-A
• MyVariant Identifiers: chr2:g.179433632C>A (hg19) ; chr2:g.178568905C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178568905C>A , CM000664.2:g.178568905C>A	GRCh38
NC_000002.11:g.179433632C>A , CM000664.1:g.179433632C>A	GRCh37
NC_000002.10:g.179141878C>A	NCBI36
NG_011618.3:g.266898G>T , LRG_391:g.266898G>T
NG_051363.1:g.51079C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.69523G>T (TTN)	ENSP00000343764.6:p.Glu23175Ter
ENST00000342175.11:c.50608G>T (TTN)	ENSP00000340554.6:p.Glu16870Ter
ENST00000359218.10:c.50407G>T (TTN)	ENSP00000352154.5:p.Glu16803Ter
ENST00000342175.10:c.50608G>T (TTN)	ENSP00000340554.6:p.Glu16870Ter
ENST00000342992.10:c.69523G>T (TTN)	ENSP00000343764.6:p.Glu23175Ter
ENST00000359218.9:c.50407G>T (TTN)	ENSP00000352154.5:p.Glu16803Ter
ENST00000460472.6:c.50032G>T (TTN)	ENSP00000434586.1:p.Glu16678Ter
ENST00000589042.5:c.77227G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu25743Ter
ENST00000591111.5:c.72304G>T (TTN)	ENSP00000465570.1:p.Glu24102Ter
ENST00000615779.4:c.72304G>T (TTN)	ENSP00000483597.1:p.Glu24102Ter
NM_001256850.1:c.72304G>T (TTN)	NP_001243779.1:p.Glu24102Ter
NM_001267550.2:c.77227G>T (TTN) MANE Select	NP_001254479.2:p.Glu25743Ter
NM_003319.4:c.50032G>T (TTN)	NP_003310.4:p.Glu16678Ter
NM_133378.4:c.69523G>T (TTN)	NP_596869.4:p.Glu23175Ter
NM_133432.3:c.50407G>T (TTN)	NP_597676.3:p.Glu16803Ter
NM_133437.4:c.50608G>T (TTN)	NP_597681.4:p.Glu16870Ter
NR_038271.1:n.447-2395C>A (TTN-AS1)
NR_038272.1:n.2044-13667C>A (TTN-AS1)
XM_011511729.1:c.76324G>T (TTN)	XP_011510031.1:p.Glu25442Ter
XM_011511730.1:c.50218G>T (TTN)	XP_011510032.1:p.Glu16740Ter
XM_011511731.1:c.50077G>T (TTN)	XP_011510033.1:p.Glu16693Ter
XM_017004819.1:c.76120G>T (TTN)	XP_016860308.1:p.Glu25374Ter
XM_017004820.1:c.71518G>T (TTN)	XP_016860309.1:p.Glu23840Ter
XM_017004821.1:c.71515G>T (TTN)	XP_016860310.1:p.Glu23839Ter
XM_017004822.1:c.68557G>T (TTN)	XP_016860311.1:p.Glu22853Ter
XM_017004823.1:c.50173G>T (TTN)	XP_016860312.1:p.Glu16725Ter
XM_024453094.1:c.71668G>T (TTN)	XP_024308862.1:p.Glu23890Ter
XM_024453095.1:c.71665G>T (TTN)	XP_024308863.1:p.Glu23889Ter
XM_024453096.1:c.71098G>T (TTN)	XP_024308864.1:p.Glu23700Ter
XM_024453097.1:c.68440G>T (TTN)	XP_024308865.1:p.Glu22814Ter
XM_024453098.1:c.68359G>T (TTN)	XP_024308866.1:p.Glu22787Ter
XM_024453099.1:c.50122G>T (TTN)	XP_024308867.1:p.Glu16708Ter
XM_024453100.1:c.39976G>T (TTN)	XP_024308868.1:p.Glu13326Ter