Canonical Allele Identifier: CA349585722

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179474710G>A (hg19) ; chr2:g.178609983G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178609983G>A , CM000664.2:g.178609983G>A	GRCh38
NC_000002.11:g.179474710G>A , CM000664.1:g.179474710G>A	GRCh37
NC_000002.10:g.179182955G>A	NCBI36
NG_011618.3:g.225820C>T , LRG_391:g.225820C>T
NG_051363.1:g.92157G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.43736C>T (TTN)	ENSP00000343764.6:p.Pro14579Leu
ENST00000342175.11:c.24821C>T (TTN)	ENSP00000340554.6:p.Pro8274Leu
ENST00000359218.10:c.24620C>T (TTN)	ENSP00000352154.5:p.Pro8207Leu
ENST00000342175.10:c.24821C>T (TTN)	ENSP00000340554.6:p.Pro8274Leu
ENST00000342992.10:c.43736C>T (TTN)	ENSP00000343764.6:p.Pro14579Leu
ENST00000359218.9:c.24620C>T (TTN)	ENSP00000352154.5:p.Pro8207Leu
ENST00000460472.6:c.24245C>T (TTN)	ENSP00000434586.1:p.Pro8082Leu
ENST00000589042.5:c.51440C>T (TTN) MANE Select	ENSP00000467141.1:p.Pro17147Leu
ENST00000591111.5:c.46517C>T (TTN)	ENSP00000465570.1:p.Pro15506Leu
ENST00000615779.4:c.46517C>T (TTN)	ENSP00000483597.1:p.Pro15506Leu
NM_001256850.1:c.46517C>T (TTN)	NP_001243779.1:p.Pro15506Leu
NM_001267550.2:c.51440C>T (TTN) MANE Select	NP_001254479.2:p.Pro17147Leu
NM_003319.4:c.24245C>T (TTN)	NP_003310.4:p.Pro8082Leu
NM_133378.4:c.43736C>T (TTN)	NP_596869.4:p.Pro14579Leu
NM_133432.3:c.24620C>T (TTN)	NP_597676.3:p.Pro8207Leu
NM_133437.4:c.24821C>T (TTN)	NP_597681.4:p.Pro8274Leu
NR_038271.1:n.782+1717G>A (TTN-AS1)
XM_011511729.1:c.50537C>T (TTN)	XP_011510031.1:p.Pro16846Leu
XM_011511730.1:c.24431C>T (TTN)	XP_011510032.1:p.Pro8144Leu
XM_011511731.1:c.24290C>T (TTN)	XP_011510033.1:p.Pro8097Leu
XM_017004819.1:c.50333C>T (TTN)	XP_016860308.1:p.Pro16778Leu
XM_017004820.1:c.45731C>T (TTN)	XP_016860309.1:p.Pro15244Leu
XM_017004821.1:c.45728C>T (TTN)	XP_016860310.1:p.Pro15243Leu
XM_017004822.1:c.42770C>T (TTN)	XP_016860311.1:p.Pro14257Leu
XM_017004823.1:c.24386C>T (TTN)	XP_016860312.1:p.Pro8129Leu
XM_024453094.1:c.45881C>T (TTN)	XP_024308862.1:p.Pro15294Leu
XM_024453095.1:c.45878C>T (TTN)	XP_024308863.1:p.Pro15293Leu
XM_024453096.1:c.45311C>T (TTN)	XP_024308864.1:p.Pro15104Leu
XM_024453097.1:c.42653C>T (TTN)	XP_024308865.1:p.Pro14218Leu
XM_024453098.1:c.42572C>T (TTN)	XP_024308866.1:p.Pro14191Leu
XM_024453099.1:c.24335C>T (TTN)	XP_024308867.1:p.Pro8112Leu
XM_024453100.1:c.14189C>T (TTN)	XP_024308868.1:p.Pro4730Leu