Canonical Allele Identifier: CA349446254

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179408054T>A (hg19) ; chr2:g.178543327T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543327T>A , CM000664.2:g.178543327T>A	GRCh38
NC_000002.11:g.179408054T>A , CM000664.1:g.179408054T>A	GRCh37
NC_000002.10:g.179116300T>A	NCBI36
NG_011618.3:g.292476A>T , LRG_391:g.292476A>T
NG_051363.1:g.25501T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88942A>T (TTN)	ENSP00000343764.6:p.Lys29648Ter
ENST00000342175.11:c.70027A>T (TTN)	ENSP00000340554.6:p.Lys23343Ter
ENST00000359218.10:c.69826A>T (TTN)	ENSP00000352154.5:p.Lys23276Ter
ENST00000342175.10:c.70027A>T (TTN)	ENSP00000340554.6:p.Lys23343Ter
ENST00000342992.10:c.88942A>T (TTN)	ENSP00000343764.6:p.Lys29648Ter
ENST00000359218.9:c.69826A>T (TTN)	ENSP00000352154.5:p.Lys23276Ter
ENST00000460472.6:c.69451A>T (TTN)	ENSP00000434586.1:p.Lys23151Ter
ENST00000589042.5:c.96646A>T (TTN) MANE Select	ENSP00000467141.1:p.Lys32216Ter
ENST00000591111.5:c.91723A>T (TTN)	ENSP00000465570.1:p.Lys30575Ter
ENST00000615779.4:c.91723A>T (TTN)	ENSP00000483597.1:p.Lys30575Ter
NM_001256850.1:c.91723A>T (TTN)	NP_001243779.1:p.Lys30575Ter
NM_001267550.2:c.96646A>T (TTN) MANE Select	NP_001254479.2:p.Lys32216Ter
NM_003319.4:c.69451A>T (TTN)	NP_003310.4:p.Lys23151Ter
NM_133378.4:c.88942A>T (TTN)	NP_596869.4:p.Lys29648Ter
NM_133432.3:c.69826A>T (TTN)	NP_597676.3:p.Lys23276Ter
NM_133437.4:c.70027A>T (TTN)	NP_597681.4:p.Lys23343Ter
NR_038271.1:n.446+19691T>A (TTN-AS1)
NR_038272.1:n.2043+966T>A (TTN-AS1)
XM_011511729.1:c.95743A>T (TTN)	XP_011510031.1:p.Lys31915Ter
XM_011511730.1:c.69637A>T (TTN)	XP_011510032.1:p.Lys23213Ter
XM_011511731.1:c.69496A>T (TTN)	XP_011510033.1:p.Lys23166Ter
XM_017004819.1:c.95539A>T (TTN)	XP_016860308.1:p.Lys31847Ter
XM_017004820.1:c.90937A>T (TTN)	XP_016860309.1:p.Lys30313Ter
XM_017004821.1:c.90934A>T (TTN)	XP_016860310.1:p.Lys30312Ter
XM_017004822.1:c.87976A>T (TTN)	XP_016860311.1:p.Lys29326Ter
XM_017004823.1:c.69592A>T (TTN)	XP_016860312.1:p.Lys23198Ter
XM_024453094.1:c.91087A>T (TTN)	XP_024308862.1:p.Lys30363Ter
XM_024453095.1:c.91084A>T (TTN)	XP_024308863.1:p.Lys30362Ter
XM_024453096.1:c.90517A>T (TTN)	XP_024308864.1:p.Lys30173Ter
XM_024453097.1:c.87859A>T (TTN)	XP_024308865.1:p.Lys29287Ter
XM_024453098.1:c.87778A>T (TTN)	XP_024308866.1:p.Lys29260Ter
XM_024453099.1:c.69541A>T (TTN)	XP_024308867.1:p.Lys23181Ter
XM_024453100.1:c.59395A>T (TTN)	XP_024308868.1:p.Lys19799Ter