Canonical Allele Identifier: CA349411784

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1020175
• ClinVar RCV Id: RCV001319714 ; RCV001773637
• dbSNP Id: rs115150240
• gnomAD v4: 2-178532201-C-G
• MyVariant Identifiers: chr2:g.179396928C>G (hg19) ; chr2:g.178532201C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532201C>G , CM000664.2:g.178532201C>G	GRCh38
NC_000002.11:g.179396928C>G , CM000664.1:g.179396928C>G	GRCh37
NC_000002.10:g.179105174C>G	NCBI36
NG_011618.3:g.303602G>C , LRG_391:g.303602G>C
NG_051363.1:g.14375C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96710G>C (TTN)	ENSP00000343764.6:p.Arg32237Pro
ENST00000342175.11:c.77795G>C (TTN)	ENSP00000340554.6:p.Arg25932Pro
ENST00000359218.10:c.77594G>C (TTN)	ENSP00000352154.5:p.Arg25865Pro
ENST00000342175.10:c.77795G>C (TTN)	ENSP00000340554.6:p.Arg25932Pro
ENST00000342992.10:c.96710G>C (TTN)	ENSP00000343764.6:p.Arg32237Pro
ENST00000359218.9:c.77594G>C (TTN)	ENSP00000352154.5:p.Arg25865Pro
ENST00000460472.6:c.77219G>C (TTN)	ENSP00000434586.1:p.Arg25740Pro
ENST00000589042.5:c.104414G>C (TTN) MANE Select	ENSP00000467141.1:p.Arg34805Pro
ENST00000591111.5:c.99491G>C (TTN)	ENSP00000465570.1:p.Arg33164Pro
ENST00000615779.4:c.99491G>C (TTN)	ENSP00000483597.1:p.Arg33164Pro
NM_001256850.1:c.99491G>C (TTN)	NP_001243779.1:p.Arg33164Pro
NM_001267550.2:c.104414G>C (TTN) MANE Select	NP_001254479.2:p.Arg34805Pro
NM_003319.4:c.77219G>C (TTN)	NP_003310.4:p.Arg25740Pro
NM_133378.4:c.96710G>C (TTN)	NP_596869.4:p.Arg32237Pro
NM_133432.3:c.77594G>C (TTN)	NP_597676.3:p.Arg25865Pro
NM_133437.4:c.77795G>C (TTN)	NP_597681.4:p.Arg25932Pro
NR_038271.1:n.446+8565C>G (TTN-AS1)
NR_038272.1:n.220-3531C>G (TTN-AS1)
XM_011511729.1:c.103511G>C (TTN)	XP_011510031.1:p.Arg34504Pro
XM_011511730.1:c.77405G>C (TTN)	XP_011510032.1:p.Arg25802Pro
XM_011511731.1:c.77264G>C (TTN)	XP_011510033.1:p.Arg25755Pro
XM_017004819.1:c.103307G>C (TTN)	XP_016860308.1:p.Arg34436Pro
XM_017004820.1:c.98705G>C (TTN)	XP_016860309.1:p.Arg32902Pro
XM_017004821.1:c.98702G>C (TTN)	XP_016860310.1:p.Arg32901Pro
XM_017004822.1:c.95744G>C (TTN)	XP_016860311.1:p.Arg31915Pro
XM_017004823.1:c.77360G>C (TTN)	XP_016860312.1:p.Arg25787Pro
XM_024453094.1:c.98855G>C (TTN)	XP_024308862.1:p.Arg32952Pro
XM_024453095.1:c.98852G>C (TTN)	XP_024308863.1:p.Arg32951Pro
XM_024453096.1:c.98285G>C (TTN)	XP_024308864.1:p.Arg32762Pro
XM_024453097.1:c.95627G>C (TTN)	XP_024308865.1:p.Arg31876Pro
XM_024453098.1:c.95546G>C (TTN)	XP_024308866.1:p.Arg31849Pro
XM_024453099.1:c.77309G>C (TTN)	XP_024308867.1:p.Arg25770Pro
XM_024453100.1:c.67163G>C (TTN)	XP_024308868.1:p.Arg22388Pro