Canonical Allele Identifier: CA2003996

Gene: TTN

Linked Data

• ClinVar Variation Id: 535111
• ClinVar RCV Id: RCV000642895 ; RCV001729669 ; RCV002469230
• dbSNP Id: rs527924868
• ExAC: 2:179621137 A / G
• gnomAD v2: 2-179621137-A-G
• gnomAD v3: 2-178756410-A-G
• gnomAD v4: 2-178756410-A-G
• MyVariant Identifiers: chr2:g.179621137A>G (hg19) ; chr2:g.178756410A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178756410A>G , CM000664.2:g.178756410A>G	GRCh38
NC_000002.11:g.179621137A>G , CM000664.1:g.179621137A>G	GRCh37
NC_000002.10:g.179329382A>G	NCBI36
NG_011618.3:g.79393T>C , LRG_391:g.79393T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.10303+2574T>C	ENSP00000343764.6:n.10303+2574T>C
ENST00000342175.11:c.10553T>C	ENSP00000340554.6:p.Ile3518Thr
ENST00000359218.10:c.10540+1132T>C	ENSP00000352154.5:n.10540+1132T>C
ENST00000360870.10:c.10303+2574T>C MANE Plus Clinical	ENSP00000354117.4:n.10303+2574T>C
ENST00000342175.10:c.10553T>C	ENSP00000340554.6:p.Ile3518Thr
ENST00000342992.10:c.10303+2574T>C	ENSP00000343764.6:n.10303+2574T>C
ENST00000359218.9:c.10540+1132T>C	ENSP00000352154.5:n.10540+1132T>C
ENST00000360870.9:c.10303+2574T>C	ENSP00000354117.4:n.10303+2574T>C
ENST00000460472.6:c.10165+2574T>C	ENSP00000434586.1:n.10165+2574T>C
ENST00000589042.5:c.11066T>C MANE Select	ENSP00000467141.1:p.Ile3689Thr
ENST00000591111.5:c.10303+2574T>C	ENSP00000465570.1:n.10303+2574T>C
ENST00000615779.4:c.10303+2574T>C	ENSP00000483597.1:n.10303+2574T>C
ENST00000634225.1:c.900-2401T>C
NM_001256850.1:c.10303+2574T>C	NP_001243779.1:n.10303+2574T>C
NM_001267550.2:c.11066T>C MANE Select	NP_001254479.2:p.Ile3689Thr
NM_003319.4:c.10165+2574T>C	NP_003310.4:n.10165+2574T>C
NM_133378.4:c.10303+2574T>C	NP_596869.4:n.10303+2574T>C
NM_133379.4:c.10303+2574T>C , LRG_391t2:c.10303+2574T>C	NP_596870.2:n.10303+2574T>C
NM_133432.3:c.10540+1132T>C	NP_597676.3:n.10540+1132T>C
NM_133437.4:c.10553T>C	NP_597681.4:p.Ile3518Thr
XM_011511729.1:c.10351+2574T>C	XP_011510031.1:n.10351+2574T>C
XM_011511730.1:c.10351+2574T>C	XP_011510032.1:n.10351+2574T>C
XM_011511731.1:c.10210+2574T>C	XP_011510033.1:n.10210+2574T>C
XM_011511732.1:c.10348+2574T>C	XP_011510034.1:n.10348+2574T>C
XM_017004819.1:c.10306+2574T>C	XP_016860308.1:n.10306+2574T>C
XM_017004820.1:c.10306+2574T>C	XP_016860309.1:n.10306+2574T>C
XM_017004821.1:c.10303+2574T>C	XP_016860310.1:n.10303+2574T>C
XM_017004822.1:c.10306+2574T>C	XP_016860311.1:n.10306+2574T>C
XM_017004823.1:c.10306+2574T>C	XP_016860312.1:n.10306+2574T>C
XM_024453094.1:c.10306+2574T>C	XP_024308862.1:n.10306+2574T>C
XM_024453095.1:c.10306+2574T>C	XP_024308863.1:n.10306+2574T>C
XM_024453096.1:c.10306+2574T>C	XP_024308864.1:n.10306+2574T>C
XM_024453097.1:c.10306+2574T>C	XP_024308865.1:n.10306+2574T>C
XM_024453098.1:c.10306+2574T>C	XP_024308866.1:n.10306+2574T>C
XM_024453099.1:c.10306+2574T>C	XP_024308867.1:n.10306+2574T>C
NM_133379.5:c.10303+2574T>C MANE Plus Clinical	NP_596870.2:n.10303+2574T>C