Canonical Allele Identifier: CA349593271

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1705804390
• gnomAD v4: 2-178566265-C-T
• COSMIC: COSM348004 ; COSM348005 ; COSM348006
• MyVariant Identifiers: chr2:g.179430992C>T (hg19) ; chr2:g.178566265C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178566265C>T , CM000664.2:g.178566265C>T	GRCh38
NC_000002.11:g.179430992C>T , CM000664.1:g.179430992C>T	GRCh37
NC_000002.10:g.179139238C>T	NCBI36
NG_011618.3:g.269538G>A , LRG_391:g.269538G>A
NG_051363.1:g.48439C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.72163G>A (TTN)	ENSP00000343764.6:p.Glu24055Lys
ENST00000342175.11:c.53248G>A (TTN)	ENSP00000340554.6:p.Glu17750Lys
ENST00000359218.10:c.53047G>A (TTN)	ENSP00000352154.5:p.Glu17683Lys
ENST00000342175.10:c.53248G>A (TTN)	ENSP00000340554.6:p.Glu17750Lys
ENST00000342992.10:c.72163G>A (TTN)	ENSP00000343764.6:p.Glu24055Lys
ENST00000359218.9:c.53047G>A (TTN)	ENSP00000352154.5:p.Glu17683Lys
ENST00000460472.6:c.52672G>A (TTN)	ENSP00000434586.1:p.Glu17558Lys
ENST00000589042.5:c.79867G>A (TTN) MANE Select	ENSP00000467141.1:p.Glu26623Lys
ENST00000591111.5:c.74944G>A (TTN)	ENSP00000465570.1:p.Glu24982Lys
ENST00000615779.4:c.74944G>A (TTN)	ENSP00000483597.1:p.Glu24982Lys
NM_001256850.1:c.74944G>A (TTN)	NP_001243779.1:p.Glu24982Lys
NM_001267550.2:c.79867G>A (TTN) MANE Select	NP_001254479.2:p.Glu26623Lys
NM_003319.4:c.52672G>A (TTN)	NP_003310.4:p.Glu17558Lys
NM_133378.4:c.72163G>A (TTN)	NP_596869.4:p.Glu24055Lys
NM_133432.3:c.53047G>A (TTN)	NP_597676.3:p.Glu17683Lys
NM_133437.4:c.53248G>A (TTN)	NP_597681.4:p.Glu17750Lys
NR_038271.1:n.447-5035C>T (TTN-AS1)
NR_038272.1:n.2044-16307C>T (TTN-AS1)
XM_011511729.1:c.78964G>A (TTN)	XP_011510031.1:p.Glu26322Lys
XM_011511730.1:c.52858G>A (TTN)	XP_011510032.1:p.Glu17620Lys
XM_011511731.1:c.52717G>A (TTN)	XP_011510033.1:p.Glu17573Lys
XM_017004819.1:c.78760G>A (TTN)	XP_016860308.1:p.Glu26254Lys
XM_017004820.1:c.74158G>A (TTN)	XP_016860309.1:p.Glu24720Lys
XM_017004821.1:c.74155G>A (TTN)	XP_016860310.1:p.Glu24719Lys
XM_017004822.1:c.71197G>A (TTN)	XP_016860311.1:p.Glu23733Lys
XM_017004823.1:c.52813G>A (TTN)	XP_016860312.1:p.Glu17605Lys
XM_024453094.1:c.74308G>A (TTN)	XP_024308862.1:p.Glu24770Lys
XM_024453095.1:c.74305G>A (TTN)	XP_024308863.1:p.Glu24769Lys
XM_024453096.1:c.73738G>A (TTN)	XP_024308864.1:p.Glu24580Lys
XM_024453097.1:c.71080G>A (TTN)	XP_024308865.1:p.Glu23694Lys
XM_024453098.1:c.70999G>A (TTN)	XP_024308866.1:p.Glu23667Lys
XM_024453099.1:c.52762G>A (TTN)	XP_024308867.1:p.Glu17588Lys
XM_024453100.1:c.42616G>A (TTN)	XP_024308868.1:p.Glu14206Lys