Canonical Allele Identifier: CA349593268

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179430992C>G (hg19) ; chr2:g.178566265C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.72163G>C (TTN)	ENSP00000343764.6:p.Glu24055Gln
ENST00000342175.11:c.53248G>C (TTN)	ENSP00000340554.6:p.Glu17750Gln
ENST00000359218.10:c.53047G>C (TTN)	ENSP00000352154.5:p.Glu17683Gln
ENST00000342175.10:c.53248G>C (TTN)	ENSP00000340554.6:p.Glu17750Gln
ENST00000342992.10:c.72163G>C (TTN)	ENSP00000343764.6:p.Glu24055Gln
ENST00000359218.9:c.53047G>C (TTN)	ENSP00000352154.5:p.Glu17683Gln
ENST00000460472.6:c.52672G>C (TTN)	ENSP00000434586.1:p.Glu17558Gln
ENST00000589042.5:c.79867G>C (TTN) MANE Select	ENSP00000467141.1:p.Glu26623Gln
ENST00000591111.5:c.74944G>C (TTN)	ENSP00000465570.1:p.Glu24982Gln
ENST00000615779.4:c.74944G>C (TTN)	ENSP00000483597.1:p.Glu24982Gln
NM_001256850.1:c.74944G>C (TTN)	NP_001243779.1:p.Glu24982Gln
NM_001267550.2:c.79867G>C (TTN) MANE Select	NP_001254479.2:p.Glu26623Gln
NM_003319.4:c.52672G>C (TTN)	NP_003310.4:p.Glu17558Gln
NM_133378.4:c.72163G>C (TTN)	NP_596869.4:p.Glu24055Gln
NM_133432.3:c.53047G>C (TTN)	NP_597676.3:p.Glu17683Gln
NM_133437.4:c.53248G>C (TTN)	NP_597681.4:p.Glu17750Gln
NR_038271.1:n.447-5035C>G (TTN-AS1)
NR_038272.1:n.2044-16307C>G (TTN-AS1)
XM_011511729.1:c.78964G>C (TTN)	XP_011510031.1:p.Glu26322Gln
XM_011511730.1:c.52858G>C (TTN)	XP_011510032.1:p.Glu17620Gln
XM_011511731.1:c.52717G>C (TTN)	XP_011510033.1:p.Glu17573Gln
XM_017004819.1:c.78760G>C (TTN)	XP_016860308.1:p.Glu26254Gln
XM_017004820.1:c.74158G>C (TTN)	XP_016860309.1:p.Glu24720Gln
XM_017004821.1:c.74155G>C (TTN)	XP_016860310.1:p.Glu24719Gln
XM_017004822.1:c.71197G>C (TTN)	XP_016860311.1:p.Glu23733Gln
XM_017004823.1:c.52813G>C (TTN)	XP_016860312.1:p.Glu17605Gln
XM_024453094.1:c.74308G>C (TTN)	XP_024308862.1:p.Glu24770Gln
XM_024453095.1:c.74305G>C (TTN)	XP_024308863.1:p.Glu24769Gln
XM_024453096.1:c.73738G>C (TTN)	XP_024308864.1:p.Glu24580Gln
XM_024453097.1:c.71080G>C (TTN)	XP_024308865.1:p.Glu23694Gln
XM_024453098.1:c.70999G>C (TTN)	XP_024308866.1:p.Glu23667Gln
XM_024453099.1:c.52762G>C (TTN)	XP_024308867.1:p.Glu17588Gln
XM_024453100.1:c.42616G>C (TTN)	XP_024308868.1:p.Glu14206Gln