Canonical Allele Identifier: CA349584959

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179429913A>T (hg19) ; chr2:g.178565186A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178565186A>T , CM000664.2:g.178565186A>T	GRCh38
NC_000002.11:g.179429913A>T , CM000664.1:g.179429913A>T	GRCh37
NC_000002.10:g.179138159A>T	NCBI36
NG_011618.3:g.270617T>A , LRG_391:g.270617T>A
NG_051363.1:g.47360A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.73242T>A (TTN)	ENSP00000343764.6:p.Phe24414Leu
ENST00000342175.11:c.54327T>A (TTN)	ENSP00000340554.6:p.Phe18109Leu
ENST00000359218.10:c.54126T>A (TTN)	ENSP00000352154.5:p.Phe18042Leu
ENST00000342175.10:c.54327T>A (TTN)	ENSP00000340554.6:p.Phe18109Leu
ENST00000342992.10:c.73242T>A (TTN)	ENSP00000343764.6:p.Phe24414Leu
ENST00000359218.9:c.54126T>A (TTN)	ENSP00000352154.5:p.Phe18042Leu
ENST00000460472.6:c.53751T>A (TTN)	ENSP00000434586.1:p.Phe17917Leu
ENST00000589042.5:c.80946T>A (TTN) MANE Select	ENSP00000467141.1:p.Phe26982Leu
ENST00000591111.5:c.76023T>A (TTN)	ENSP00000465570.1:p.Phe25341Leu
ENST00000615779.4:c.76023T>A (TTN)	ENSP00000483597.1:p.Phe25341Leu
NM_001256850.1:c.76023T>A (TTN)	NP_001243779.1:p.Phe25341Leu
NM_001267550.2:c.80946T>A (TTN) MANE Select	NP_001254479.2:p.Phe26982Leu
NM_003319.4:c.53751T>A (TTN)	NP_003310.4:p.Phe17917Leu
NM_133378.4:c.73242T>A (TTN)	NP_596869.4:p.Phe24414Leu
NM_133432.3:c.54126T>A (TTN)	NP_597676.3:p.Phe18042Leu
NM_133437.4:c.54327T>A (TTN)	NP_597681.4:p.Phe18109Leu
NR_038271.1:n.447-6114A>T (TTN-AS1)
NR_038272.1:n.2044-17386A>T (TTN-AS1)
XM_011511729.1:c.80043T>A (TTN)	XP_011510031.1:p.Phe26681Leu
XM_011511730.1:c.53937T>A (TTN)	XP_011510032.1:p.Phe17979Leu
XM_011511731.1:c.53796T>A (TTN)	XP_011510033.1:p.Phe17932Leu
XM_017004819.1:c.79839T>A (TTN)	XP_016860308.1:p.Phe26613Leu
XM_017004820.1:c.75237T>A (TTN)	XP_016860309.1:p.Phe25079Leu
XM_017004821.1:c.75234T>A (TTN)	XP_016860310.1:p.Phe25078Leu
XM_017004822.1:c.72276T>A (TTN)	XP_016860311.1:p.Phe24092Leu
XM_017004823.1:c.53892T>A (TTN)	XP_016860312.1:p.Phe17964Leu
XM_024453094.1:c.75387T>A (TTN)	XP_024308862.1:p.Phe25129Leu
XM_024453095.1:c.75384T>A (TTN)	XP_024308863.1:p.Phe25128Leu
XM_024453096.1:c.74817T>A (TTN)	XP_024308864.1:p.Phe24939Leu
XM_024453097.1:c.72159T>A (TTN)	XP_024308865.1:p.Phe24053Leu
XM_024453098.1:c.72078T>A (TTN)	XP_024308866.1:p.Phe24026Leu
XM_024453099.1:c.53841T>A (TTN)	XP_024308867.1:p.Phe17947Leu
XM_024453100.1:c.43695T>A (TTN)	XP_024308868.1:p.Phe14565Leu