Canonical Allele Identifier: CA10587443

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 264498
• ClinVar RCV Id: RCV000254263 ; RCV000265609 ; RCV001425929
• dbSNP Id: rs886039175
• gnomAD v4: 2-178533730-A-G
• MyVariant Identifiers: chr2:g.179398457A>G (hg19) ; chr2:g.178533730A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178533730A>G , CM000664.2:g.178533730A>G	GRCh38
NC_000002.11:g.179398457A>G , CM000664.1:g.179398457A>G	GRCh37
NC_000002.10:g.179106703A>G	NCBI36
NG_011618.3:g.302073T>C , LRG_391:g.302073T>C
NG_051363.1:g.15904A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.95181T>C (TTN)	ENSP00000343764.6:p.Gly31727=
ENST00000342175.11:c.76266T>C (TTN)	ENSP00000340554.6:p.Gly25422=
ENST00000359218.10:c.76065T>C (TTN)	ENSP00000352154.5:p.Gly25355=
ENST00000342175.10:c.76266T>C (TTN)	ENSP00000340554.6:p.Gly25422=
ENST00000342992.10:c.95181T>C (TTN)	ENSP00000343764.6:p.Gly31727=
ENST00000359218.9:c.76065T>C (TTN)	ENSP00000352154.5:p.Gly25355=
ENST00000460472.6:c.75690T>C (TTN)	ENSP00000434586.1:p.Gly25230=
ENST00000589042.5:c.102885T>C (TTN) MANE Select	ENSP00000467141.1:p.Gly34295=
ENST00000591111.5:c.97962T>C (TTN)	ENSP00000465570.1:p.Gly32654=
ENST00000615779.4:c.97962T>C (TTN)	ENSP00000483597.1:p.Gly32654=
NM_001256850.1:c.97962T>C (TTN)	NP_001243779.1:p.Gly32654=
NM_001267550.2:c.102885T>C (TTN) MANE Select	NP_001254479.2:p.Gly34295=
NM_003319.4:c.75690T>C (TTN)	NP_003310.4:p.Gly25230=
NM_133378.4:c.95181T>C (TTN)	NP_596869.4:p.Gly31727=
NM_133432.3:c.76065T>C (TTN)	NP_597676.3:p.Gly25355=
NM_133437.4:c.76266T>C (TTN)	NP_597681.4:p.Gly25422=
NR_038271.1:n.446+10094A>G (TTN-AS1)
NR_038272.1:n.220-2002A>G (TTN-AS1)
XM_011511729.1:c.101982T>C (TTN)	XP_011510031.1:p.Gly33994=
XM_011511730.1:c.75876T>C (TTN)	XP_011510032.1:p.Gly25292=
XM_011511731.1:c.75735T>C (TTN)	XP_011510033.1:p.Gly25245=
XM_017004819.1:c.101778T>C (TTN)	XP_016860308.1:p.Gly33926=
XM_017004820.1:c.97176T>C (TTN)	XP_016860309.1:p.Gly32392=
XM_017004821.1:c.97173T>C (TTN)	XP_016860310.1:p.Gly32391=
XM_017004822.1:c.94215T>C (TTN)	XP_016860311.1:p.Gly31405=
XM_017004823.1:c.75831T>C (TTN)	XP_016860312.1:p.Gly25277=
XM_024453094.1:c.97326T>C (TTN)	XP_024308862.1:p.Gly32442=
XM_024453095.1:c.97323T>C (TTN)	XP_024308863.1:p.Gly32441=
XM_024453096.1:c.96756T>C (TTN)	XP_024308864.1:p.Gly32252=
XM_024453097.1:c.94098T>C (TTN)	XP_024308865.1:p.Gly31366=
XM_024453098.1:c.94017T>C (TTN)	XP_024308866.1:p.Gly31339=
XM_024453099.1:c.75780T>C (TTN)	XP_024308867.1:p.Gly25260=
XM_024453100.1:c.65634T>C (TTN)	XP_024308868.1:p.Gly21878=