Canonical Allele Identifier: CA349483851

Gene: TTN

Linked Data

• MyVariant Identifiers: chr2:g.179523432C>A (hg19) ; chr2:g.178658705C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178658705C>A , CM000664.2:g.178658705C>A	GRCh38
NC_000002.11:g.179523432C>A , CM000664.1:g.179523432C>A	GRCh37
NC_000002.10:g.179231677C>A	NCBI36
NG_011618.3:g.177098G>T , LRG_391:g.177098G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.31741+300G>T	ENSP00000343764.6:n.31741+300G>T
ENST00000342175.11:c.13859-16388G>T	ENSP00000340554.6:n.13859-16388G>T
ENST00000359218.10:c.13658-16388G>T	ENSP00000352154.5:n.13658-16388G>T
ENST00000342175.10:c.13859-16388G>T	ENSP00000340554.6:n.13859-16388G>T
ENST00000342992.10:c.31741+300G>T	ENSP00000343764.6:n.31741+300G>T
ENST00000359218.9:c.13658-16388G>T	ENSP00000352154.5:n.13658-16388G>T
ENST00000414766.5:c.2440+14928G>T	ENSP00000401501.1:n.2440+14928G>T
ENST00000460472.6:c.13283-16388G>T	ENSP00000434586.1:n.13283-16388G>T
ENST00000589042.5:c.37543G>T MANE Select	ENSP00000467141.1:p.Val12515Phe
ENST00000591111.5:c.34354G>T	ENSP00000465570.1:p.Val11452Leu
ENST00000615779.4:c.34522+300G>T	ENSP00000483597.1:n.34522+300G>T
NM_001256850.1:c.34522+300G>T	NP_001243779.1:n.34522+300G>T
NM_001267550.2:c.37543G>T MANE Select	NP_001254479.2:p.Val12515Phe
NM_003319.4:c.13283-16388G>T	NP_003310.4:n.13283-16388G>T
NM_133378.4:c.31741+300G>T	NP_596869.4:n.31741+300G>T
NM_133432.3:c.13658-16388G>T	NP_597676.3:n.13658-16388G>T
NM_133437.4:c.13859-16388G>T	NP_597681.4:n.13859-16388G>T
XM_011511729.1:c.36640G>T	XP_011510031.1:p.Val12214Phe
XM_011511730.1:c.13469-16388G>T	XP_011510032.1:n.13469-16388G>T
XM_011511731.1:c.13328-16388G>T	XP_011510033.1:n.13328-16388G>T
XM_017004819.1:c.36436G>T	XP_016860308.1:p.Val12146Phe
XM_017004820.1:c.31834G>T	XP_016860309.1:p.Val10612Phe
XM_017004821.1:c.31831G>T	XP_016860310.1:p.Val10611Phe
XM_017004822.1:c.31858+14928G>T	XP_016860311.1:n.31858+14928G>T
XM_017004823.1:c.13424-16388G>T	XP_016860312.1:n.13424-16388G>T
XM_024453094.1:c.33478G>T	XP_024308862.1:p.Val11160Leu
XM_024453095.1:c.33475G>T	XP_024308863.1:p.Val11159Leu
XM_024453096.1:c.32908G>T	XP_024308864.1:p.Val10970Leu
XM_024453097.1:c.31690+14928G>T	XP_024308865.1:n.31690+14928G>T
XM_024453098.1:c.31609+14928G>T	XP_024308866.1:n.31609+14928G>T
XM_024453099.1:c.13424-16388G>T	XP_024308867.1:n.13424-16388G>T
XM_024453100.1:c.292G>T	XP_024308868.1:p.Val98Phe