Canonical Allele Identifier: CA349629187

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179435785A>T (hg19) ; chr2:g.178571058A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178571058A>T , CM000664.2:g.178571058A>T	GRCh38
NC_000002.11:g.179435785A>T , CM000664.1:g.179435785A>T	GRCh37
NC_000002.10:g.179144031A>T	NCBI36
NG_011618.3:g.264745T>A , LRG_391:g.264745T>A
NG_051363.1:g.53232A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.67370T>A (TTN)	ENSP00000343764.6:p.Leu22457His
ENST00000342175.11:c.48455T>A (TTN)	ENSP00000340554.6:p.Leu16152His
ENST00000359218.10:c.48254T>A (TTN)	ENSP00000352154.5:p.Leu16085His
ENST00000342175.10:c.48455T>A (TTN)	ENSP00000340554.6:p.Leu16152His
ENST00000342992.10:c.67370T>A (TTN)	ENSP00000343764.6:p.Leu22457His
ENST00000359218.9:c.48254T>A (TTN)	ENSP00000352154.5:p.Leu16085His
ENST00000460472.6:c.47879T>A (TTN)	ENSP00000434586.1:p.Leu15960His
ENST00000589042.5:c.75074T>A (TTN) MANE Select	ENSP00000467141.1:p.Leu25025His
ENST00000591111.5:c.70151T>A (TTN)	ENSP00000465570.1:p.Leu23384His
ENST00000615779.4:c.70151T>A (TTN)	ENSP00000483597.1:p.Leu23384His
NM_001256850.1:c.70151T>A (TTN)	NP_001243779.1:p.Leu23384His
NM_001267550.2:c.75074T>A (TTN) MANE Select	NP_001254479.2:p.Leu25025His
NM_003319.4:c.47879T>A (TTN)	NP_003310.4:p.Leu15960His
NM_133378.4:c.67370T>A (TTN)	NP_596869.4:p.Leu22457His
NM_133432.3:c.48254T>A (TTN)	NP_597676.3:p.Leu16085His
NM_133437.4:c.48455T>A (TTN)	NP_597681.4:p.Leu16152His
NR_038271.1:n.447-242A>T (TTN-AS1)
NR_038272.1:n.2044-11514A>T (TTN-AS1)
XM_011511729.1:c.74171T>A (TTN)	XP_011510031.1:p.Leu24724His
XM_011511730.1:c.48065T>A (TTN)	XP_011510032.1:p.Leu16022His
XM_011511731.1:c.47924T>A (TTN)	XP_011510033.1:p.Leu15975His
XM_017004819.1:c.73967T>A (TTN)	XP_016860308.1:p.Leu24656His
XM_017004820.1:c.69365T>A (TTN)	XP_016860309.1:p.Leu23122His
XM_017004821.1:c.69362T>A (TTN)	XP_016860310.1:p.Leu23121His
XM_017004822.1:c.66404T>A (TTN)	XP_016860311.1:p.Leu22135His
XM_017004823.1:c.48020T>A (TTN)	XP_016860312.1:p.Leu16007His
XM_024453094.1:c.69515T>A (TTN)	XP_024308862.1:p.Leu23172His
XM_024453095.1:c.69512T>A (TTN)	XP_024308863.1:p.Leu23171His
XM_024453096.1:c.68945T>A (TTN)	XP_024308864.1:p.Leu22982His
XM_024453097.1:c.66287T>A (TTN)	XP_024308865.1:p.Leu22096His
XM_024453098.1:c.66206T>A (TTN)	XP_024308866.1:p.Leu22069His
XM_024453099.1:c.47969T>A (TTN)	XP_024308867.1:p.Leu15990His
XM_024453100.1:c.37823T>A (TTN)	XP_024308868.1:p.Leu12608His