Canonical Allele Identifier: CA349645172

Gene: TTN

Linked Data

• MyVariant Identifiers: chr2:g.179494980G>T (hg19) ; chr2:g.178630253G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178630253G>T , CM000664.2:g.178630253G>T	GRCh38
NC_000002.11:g.179494980G>T , CM000664.1:g.179494980G>T	GRCh37
NC_000002.10:g.179203225G>T	NCBI36
NG_011618.3:g.205550C>A , LRG_391:g.205550C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.36565C>A	ENSP00000343764.6:p.Leu12189Ile
ENST00000342175.11:c.17650C>A	ENSP00000340554.6:p.Leu5884Ile
ENST00000359218.10:c.17449C>A	ENSP00000352154.5:p.Leu5817Ile
ENST00000342175.10:c.17650C>A	ENSP00000340554.6:p.Leu5884Ile
ENST00000342992.10:c.36565C>A	ENSP00000343764.6:p.Leu12189Ile
ENST00000359218.9:c.17449C>A	ENSP00000352154.5:p.Leu5817Ile
ENST00000460472.6:c.17074C>A	ENSP00000434586.1:p.Leu5692Ile
ENST00000589042.5:c.44269C>A MANE Select	ENSP00000467141.1:p.Leu14757Ile
ENST00000591111.5:c.39346C>A	ENSP00000465570.1:p.Leu13116Ile
ENST00000615779.4:c.39346C>A	ENSP00000483597.1:p.Leu13116Ile
NM_001256850.1:c.39346C>A	NP_001243779.1:p.Leu13116Ile
NM_001267550.2:c.44269C>A MANE Select	NP_001254479.2:p.Leu14757Ile
NM_003319.4:c.17074C>A	NP_003310.4:p.Leu5692Ile
NM_133378.4:c.36565C>A	NP_596869.4:p.Leu12189Ile
NM_133432.3:c.17449C>A	NP_597676.3:p.Leu5817Ile
NM_133437.4:c.17650C>A	NP_597681.4:p.Leu5884Ile
XM_011511729.1:c.43366C>A	XP_011510031.1:p.Leu14456Ile
XM_011511730.1:c.17260C>A	XP_011510032.1:p.Leu5754Ile
XM_011511731.1:c.17119C>A	XP_011510033.1:p.Leu5707Ile
XM_017004819.1:c.43162C>A	XP_016860308.1:p.Leu14388Ile
XM_017004820.1:c.38560C>A	XP_016860309.1:p.Leu12854Ile
XM_017004821.1:c.38557C>A	XP_016860310.1:p.Leu12853Ile
XM_017004822.1:c.35599C>A	XP_016860311.1:p.Leu11867Ile
XM_017004823.1:c.17215C>A	XP_016860312.1:p.Leu5739Ile
XM_024453094.1:c.38710C>A	XP_024308862.1:p.Leu12904Ile
XM_024453095.1:c.38707C>A	XP_024308863.1:p.Leu12903Ile
XM_024453096.1:c.38140C>A	XP_024308864.1:p.Leu12714Ile
XM_024453097.1:c.35482C>A	XP_024308865.1:p.Leu11828Ile
XM_024453098.1:c.35401C>A	XP_024308866.1:p.Leu11801Ile
XM_024453099.1:c.17164C>A	XP_024308867.1:p.Leu5722Ile
XM_024453100.1:c.7018C>A	XP_024308868.1:p.Leu2340Ile