Canonical Allele Identifier: CA349612815

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179433821C>A (hg19) ; chr2:g.178569094C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178569094C>A , CM000664.2:g.178569094C>A	GRCh38
NC_000002.11:g.179433821C>A , CM000664.1:g.179433821C>A	GRCh37
NC_000002.10:g.179142067C>A	NCBI36
NG_011618.3:g.266709G>T , LRG_391:g.266709G>T
NG_051363.1:g.51268C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.69334G>T (TTN)	ENSP00000343764.6:p.Glu23112Ter
ENST00000342175.11:c.50419G>T (TTN)	ENSP00000340554.6:p.Glu16807Ter
ENST00000359218.10:c.50218G>T (TTN)	ENSP00000352154.5:p.Glu16740Ter
ENST00000342175.10:c.50419G>T (TTN)	ENSP00000340554.6:p.Glu16807Ter
ENST00000342992.10:c.69334G>T (TTN)	ENSP00000343764.6:p.Glu23112Ter
ENST00000359218.9:c.50218G>T (TTN)	ENSP00000352154.5:p.Glu16740Ter
ENST00000460472.6:c.49843G>T (TTN)	ENSP00000434586.1:p.Glu16615Ter
ENST00000589042.5:c.77038G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu25680Ter
ENST00000591111.5:c.72115G>T (TTN)	ENSP00000465570.1:p.Glu24039Ter
ENST00000615779.4:c.72115G>T (TTN)	ENSP00000483597.1:p.Glu24039Ter
NM_001256850.1:c.72115G>T (TTN)	NP_001243779.1:p.Glu24039Ter
NM_001267550.2:c.77038G>T (TTN) MANE Select	NP_001254479.2:p.Glu25680Ter
NM_003319.4:c.49843G>T (TTN)	NP_003310.4:p.Glu16615Ter
NM_133378.4:c.69334G>T (TTN)	NP_596869.4:p.Glu23112Ter
NM_133432.3:c.50218G>T (TTN)	NP_597676.3:p.Glu16740Ter
NM_133437.4:c.50419G>T (TTN)	NP_597681.4:p.Glu16807Ter
NR_038271.1:n.447-2206C>A (TTN-AS1)
NR_038272.1:n.2044-13478C>A (TTN-AS1)
XM_011511729.1:c.76135G>T (TTN)	XP_011510031.1:p.Glu25379Ter
XM_011511730.1:c.50029G>T (TTN)	XP_011510032.1:p.Glu16677Ter
XM_011511731.1:c.49888G>T (TTN)	XP_011510033.1:p.Glu16630Ter
XM_017004819.1:c.75931G>T (TTN)	XP_016860308.1:p.Glu25311Ter
XM_017004820.1:c.71329G>T (TTN)	XP_016860309.1:p.Glu23777Ter
XM_017004821.1:c.71326G>T (TTN)	XP_016860310.1:p.Glu23776Ter
XM_017004822.1:c.68368G>T (TTN)	XP_016860311.1:p.Glu22790Ter
XM_017004823.1:c.49984G>T (TTN)	XP_016860312.1:p.Glu16662Ter
XM_024453094.1:c.71479G>T (TTN)	XP_024308862.1:p.Glu23827Ter
XM_024453095.1:c.71476G>T (TTN)	XP_024308863.1:p.Glu23826Ter
XM_024453096.1:c.70909G>T (TTN)	XP_024308864.1:p.Glu23637Ter
XM_024453097.1:c.68251G>T (TTN)	XP_024308865.1:p.Glu22751Ter
XM_024453098.1:c.68170G>T (TTN)	XP_024308866.1:p.Glu22724Ter
XM_024453099.1:c.49933G>T (TTN)	XP_024308867.1:p.Glu16645Ter
XM_024453100.1:c.39787G>T (TTN)	XP_024308868.1:p.Glu13263Ter