Canonical Allele Identifier: CA2004824

Gene: TTN

Linked Data

• ClinVar Variation Id: 404946
• ClinVar RCV Id: RCV000461292 ; RCV000605368 ; RCV000727780 ; RCV002374749
• dbSNP Id: rs779064962
• ExAC: 2:179638444 C / T
• gnomAD v2: 2-179638444-C-T
• gnomAD v3: 2-178773717-C-T
• gnomAD v4: 2-178773717-C-T
• MyVariant Identifiers: chr2:g.179638444C>T (hg19) ; chr2:g.178773717C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178773717C>T , CM000664.2:g.178773717C>T	GRCh38
NC_000002.11:g.179638444C>T , CM000664.1:g.179638444C>T	GRCh37
NC_000002.10:g.179346689C>T	NCBI36
NG_011618.3:g.62086G>A , LRG_391:g.62086G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.7339G>A	ENSP00000343764.6:p.Val2447Met
ENST00000342175.11:c.7201G>A	ENSP00000340554.6:p.Val2401Met
ENST00000359218.10:c.7201G>A	ENSP00000352154.5:p.Val2401Met
ENST00000360870.10:c.7339G>A MANE Plus Clinical	ENSP00000354117.4:p.Val2447Met
ENST00000342175.10:c.7201G>A	ENSP00000340554.6:p.Val2401Met
ENST00000342992.10:c.7339G>A	ENSP00000343764.6:p.Val2447Met
ENST00000359218.9:c.7201G>A	ENSP00000352154.5:p.Val2401Met
ENST00000360870.9:c.7339G>A	ENSP00000354117.4:p.Val2447Met
ENST00000460472.6:c.7201G>A	ENSP00000434586.1:p.Val2401Met
ENST00000589042.5:c.7339G>A MANE Select	ENSP00000467141.1:p.Val2447Met
ENST00000591111.5:c.7339G>A	ENSP00000465570.1:p.Val2447Met
ENST00000615779.4:c.7339G>A	ENSP00000483597.1:p.Val2447Met
NM_001256850.1:c.7339G>A	NP_001243779.1:p.Val2447Met
NM_001267550.2:c.7339G>A MANE Select	NP_001254479.2:p.Val2447Met
NM_003319.4:c.7201G>A	NP_003310.4:p.Val2401Met
NM_133378.4:c.7339G>A	NP_596869.4:p.Val2447Met
NM_133379.4:c.7339G>A , LRG_391t2:c.7339G>A	NP_596870.2:p.Val2447Met
NM_133432.3:c.7201G>A	NP_597676.3:p.Val2401Met
NM_133437.4:c.7201G>A	NP_597681.4:p.Val2401Met
XM_011511729.1:c.7387G>A	XP_011510031.1:p.Val2463Met
XM_011511730.1:c.7387G>A	XP_011510032.1:p.Val2463Met
XM_011511731.1:c.7246G>A	XP_011510033.1:p.Val2416Met
XM_011511732.1:c.7384G>A	XP_011510034.1:p.Val2462Met
XM_017004819.1:c.7342G>A	XP_016860308.1:p.Val2448Met
XM_017004820.1:c.7342G>A	XP_016860309.1:p.Val2448Met
XM_017004821.1:c.7339G>A	XP_016860310.1:p.Val2447Met
XM_017004822.1:c.7342G>A	XP_016860311.1:p.Val2448Met
XM_017004823.1:c.7342G>A	XP_016860312.1:p.Val2448Met
XM_024453094.1:c.7342G>A	XP_024308862.1:p.Val2448Met
XM_024453095.1:c.7342G>A	XP_024308863.1:p.Val2448Met
XM_024453096.1:c.7342G>A	XP_024308864.1:p.Val2448Met
XM_024453097.1:c.7342G>A	XP_024308865.1:p.Val2448Met
XM_024453098.1:c.7342G>A	XP_024308866.1:p.Val2448Met
XM_024453099.1:c.7342G>A	XP_024308867.1:p.Val2448Met
NM_133379.5:c.7339G>A MANE Plus Clinical	NP_596870.2:p.Val2447Met