Canonical Allele Identifier: CA349593240

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179430990C>A (hg19) ; chr2:g.178566263C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178566263C>A , CM000664.2:g.178566263C>A	GRCh38
NC_000002.11:g.179430990C>A , CM000664.1:g.179430990C>A	GRCh37
NC_000002.10:g.179139236C>A	NCBI36
NG_011618.3:g.269540G>T , LRG_391:g.269540G>T
NG_051363.1:g.48437C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.72165G>T (TTN)	ENSP00000343764.6:p.Glu24055Asp
ENST00000342175.11:c.53250G>T (TTN)	ENSP00000340554.6:p.Glu17750Asp
ENST00000359218.10:c.53049G>T (TTN)	ENSP00000352154.5:p.Glu17683Asp
ENST00000342175.10:c.53250G>T (TTN)	ENSP00000340554.6:p.Glu17750Asp
ENST00000342992.10:c.72165G>T (TTN)	ENSP00000343764.6:p.Glu24055Asp
ENST00000359218.9:c.53049G>T (TTN)	ENSP00000352154.5:p.Glu17683Asp
ENST00000460472.6:c.52674G>T (TTN)	ENSP00000434586.1:p.Glu17558Asp
ENST00000589042.5:c.79869G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu26623Asp
ENST00000591111.5:c.74946G>T (TTN)	ENSP00000465570.1:p.Glu24982Asp
ENST00000615779.4:c.74946G>T (TTN)	ENSP00000483597.1:p.Glu24982Asp
NM_001256850.1:c.74946G>T (TTN)	NP_001243779.1:p.Glu24982Asp
NM_001267550.2:c.79869G>T (TTN) MANE Select	NP_001254479.2:p.Glu26623Asp
NM_003319.4:c.52674G>T (TTN)	NP_003310.4:p.Glu17558Asp
NM_133378.4:c.72165G>T (TTN)	NP_596869.4:p.Glu24055Asp
NM_133432.3:c.53049G>T (TTN)	NP_597676.3:p.Glu17683Asp
NM_133437.4:c.53250G>T (TTN)	NP_597681.4:p.Glu17750Asp
NR_038271.1:n.447-5037C>A (TTN-AS1)
NR_038272.1:n.2044-16309C>A (TTN-AS1)
XM_011511729.1:c.78966G>T (TTN)	XP_011510031.1:p.Glu26322Asp
XM_011511730.1:c.52860G>T (TTN)	XP_011510032.1:p.Glu17620Asp
XM_011511731.1:c.52719G>T (TTN)	XP_011510033.1:p.Glu17573Asp
XM_017004819.1:c.78762G>T (TTN)	XP_016860308.1:p.Glu26254Asp
XM_017004820.1:c.74160G>T (TTN)	XP_016860309.1:p.Glu24720Asp
XM_017004821.1:c.74157G>T (TTN)	XP_016860310.1:p.Glu24719Asp
XM_017004822.1:c.71199G>T (TTN)	XP_016860311.1:p.Glu23733Asp
XM_017004823.1:c.52815G>T (TTN)	XP_016860312.1:p.Glu17605Asp
XM_024453094.1:c.74310G>T (TTN)	XP_024308862.1:p.Glu24770Asp
XM_024453095.1:c.74307G>T (TTN)	XP_024308863.1:p.Glu24769Asp
XM_024453096.1:c.73740G>T (TTN)	XP_024308864.1:p.Glu24580Asp
XM_024453097.1:c.71082G>T (TTN)	XP_024308865.1:p.Glu23694Asp
XM_024453098.1:c.71001G>T (TTN)	XP_024308866.1:p.Glu23667Asp
XM_024453099.1:c.52764G>T (TTN)	XP_024308867.1:p.Glu17588Asp
XM_024453100.1:c.42618G>T (TTN)	XP_024308868.1:p.Glu14206Asp