Canonical Allele Identifier: CA349640289

Gene: TTN

Linked Data

• MyVariant Identifiers: chr2:g.179489230G>T (hg19) ; chr2:g.178624503G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178624503G>T , CM000664.2:g.178624503G>T	GRCh38
NC_000002.11:g.179489230G>T , CM000664.1:g.179489230G>T	GRCh37
NC_000002.10:g.179197475G>T	NCBI36
NG_011618.3:g.211300C>A , LRG_391:g.211300C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.37073C>A	ENSP00000343764.6:p.Ala12358Asp
ENST00000342175.11:c.18158C>A	ENSP00000340554.6:p.Ala6053Asp
ENST00000359218.10:c.17957C>A	ENSP00000352154.5:p.Ala5986Asp
ENST00000342175.10:c.18158C>A	ENSP00000340554.6:p.Ala6053Asp
ENST00000342992.10:c.37073C>A	ENSP00000343764.6:p.Ala12358Asp
ENST00000359218.9:c.17957C>A	ENSP00000352154.5:p.Ala5986Asp
ENST00000460472.6:c.17582C>A	ENSP00000434586.1:p.Ala5861Asp
ENST00000589042.5:c.44777C>A MANE Select	ENSP00000467141.1:p.Ala14926Asp
ENST00000591111.5:c.39854C>A	ENSP00000465570.1:p.Ala13285Asp
ENST00000615779.4:c.39854C>A	ENSP00000483597.1:p.Ala13285Asp
NM_001256850.1:c.39854C>A	NP_001243779.1:p.Ala13285Asp
NM_001267550.2:c.44777C>A MANE Select	NP_001254479.2:p.Ala14926Asp
NM_003319.4:c.17582C>A	NP_003310.4:p.Ala5861Asp
NM_133378.4:c.37073C>A	NP_596869.4:p.Ala12358Asp
NM_133432.3:c.17957C>A	NP_597676.3:p.Ala5986Asp
NM_133437.4:c.18158C>A	NP_597681.4:p.Ala6053Asp
XM_011511729.1:c.43874C>A	XP_011510031.1:p.Ala14625Asp
XM_011511730.1:c.17768C>A	XP_011510032.1:p.Ala5923Asp
XM_011511731.1:c.17627C>A	XP_011510033.1:p.Ala5876Asp
XM_017004819.1:c.43670C>A	XP_016860308.1:p.Ala14557Asp
XM_017004820.1:c.39068C>A	XP_016860309.1:p.Ala13023Asp
XM_017004821.1:c.39065C>A	XP_016860310.1:p.Ala13022Asp
XM_017004822.1:c.36107C>A	XP_016860311.1:p.Ala12036Asp
XM_017004823.1:c.17723C>A	XP_016860312.1:p.Ala5908Asp
XM_024453094.1:c.39218C>A	XP_024308862.1:p.Ala13073Asp
XM_024453095.1:c.39215C>A	XP_024308863.1:p.Ala13072Asp
XM_024453096.1:c.38648C>A	XP_024308864.1:p.Ala12883Asp
XM_024453097.1:c.35990C>A	XP_024308865.1:p.Ala11997Asp
XM_024453098.1:c.35909C>A	XP_024308866.1:p.Ala11970Asp
XM_024453099.1:c.17672C>A	XP_024308867.1:p.Ala5891Asp
XM_024453100.1:c.7526C>A	XP_024308868.1:p.Ala2509Asp