Canonical Allele Identifier: CA349612401

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 595991
• ClinVar RCV Id: RCV000731685
• dbSNP Id: rs1362486967
• gnomAD v3: 2-178569010-C-A
• gnomAD v4: 2-178569010-C-A
• MyVariant Identifiers: chr2:g.179433737C>A (hg19) ; chr2:g.178569010C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178569010C>A , CM000664.2:g.178569010C>A	GRCh38
NC_000002.11:g.179433737C>A , CM000664.1:g.179433737C>A	GRCh37
NC_000002.10:g.179141983C>A	NCBI36
NG_011618.3:g.266793G>T , LRG_391:g.266793G>T
NG_051363.1:g.51184C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.69418G>T (TTN)	ENSP00000343764.6:p.Asp23140Tyr
ENST00000342175.11:c.50503G>T (TTN)	ENSP00000340554.6:p.Asp16835Tyr
ENST00000359218.10:c.50302G>T (TTN)	ENSP00000352154.5:p.Asp16768Tyr
ENST00000342175.10:c.50503G>T (TTN)	ENSP00000340554.6:p.Asp16835Tyr
ENST00000342992.10:c.69418G>T (TTN)	ENSP00000343764.6:p.Asp23140Tyr
ENST00000359218.9:c.50302G>T (TTN)	ENSP00000352154.5:p.Asp16768Tyr
ENST00000460472.6:c.49927G>T (TTN)	ENSP00000434586.1:p.Asp16643Tyr
ENST00000589042.5:c.77122G>T (TTN) MANE Select	ENSP00000467141.1:p.Asp25708Tyr
ENST00000591111.5:c.72199G>T (TTN)	ENSP00000465570.1:p.Asp24067Tyr
ENST00000615779.4:c.72199G>T (TTN)	ENSP00000483597.1:p.Asp24067Tyr
NM_001256850.1:c.72199G>T (TTN)	NP_001243779.1:p.Asp24067Tyr
NM_001267550.2:c.77122G>T (TTN) MANE Select	NP_001254479.2:p.Asp25708Tyr
NM_003319.4:c.49927G>T (TTN)	NP_003310.4:p.Asp16643Tyr
NM_133378.4:c.69418G>T (TTN)	NP_596869.4:p.Asp23140Tyr
NM_133432.3:c.50302G>T (TTN)	NP_597676.3:p.Asp16768Tyr
NM_133437.4:c.50503G>T (TTN)	NP_597681.4:p.Asp16835Tyr
NR_038271.1:n.447-2290C>A (TTN-AS1)
NR_038272.1:n.2044-13562C>A (TTN-AS1)
XM_011511729.1:c.76219G>T (TTN)	XP_011510031.1:p.Asp25407Tyr
XM_011511730.1:c.50113G>T (TTN)	XP_011510032.1:p.Asp16705Tyr
XM_011511731.1:c.49972G>T (TTN)	XP_011510033.1:p.Asp16658Tyr
XM_017004819.1:c.76015G>T (TTN)	XP_016860308.1:p.Asp25339Tyr
XM_017004820.1:c.71413G>T (TTN)	XP_016860309.1:p.Asp23805Tyr
XM_017004821.1:c.71410G>T (TTN)	XP_016860310.1:p.Asp23804Tyr
XM_017004822.1:c.68452G>T (TTN)	XP_016860311.1:p.Asp22818Tyr
XM_017004823.1:c.50068G>T (TTN)	XP_016860312.1:p.Asp16690Tyr
XM_024453094.1:c.71563G>T (TTN)	XP_024308862.1:p.Asp23855Tyr
XM_024453095.1:c.71560G>T (TTN)	XP_024308863.1:p.Asp23854Tyr
XM_024453096.1:c.70993G>T (TTN)	XP_024308864.1:p.Asp23665Tyr
XM_024453097.1:c.68335G>T (TTN)	XP_024308865.1:p.Asp22779Tyr
XM_024453098.1:c.68254G>T (TTN)	XP_024308866.1:p.Asp22752Tyr
XM_024453099.1:c.50017G>T (TTN)	XP_024308867.1:p.Asp16673Tyr
XM_024453100.1:c.39871G>T (TTN)	XP_024308868.1:p.Asp13291Tyr