Canonical Allele Identifier: CA430267359

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179457940T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178593213T>G , CM000664.2:g.178593213T>G	GRCh38
NC_000002.11:g.179457940T>G , CM000664.1:g.179457940T>G	GRCh37
NC_000002.10:g.179166186T>G	NCBI36
NG_011618.3:g.242590A>C , LRG_391:g.242590A>C
NG_051363.1:g.75387T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.51291A>C (TTN)	ENSP00000343764.6:p.Pro17097=
ENST00000342175.11:c.32376A>C (TTN)	ENSP00000340554.6:p.Pro10792=
ENST00000359218.10:c.32175A>C (TTN)	ENSP00000352154.5:p.Pro10725=
ENST00000342175.10:c.32376A>C (TTN)	ENSP00000340554.6:p.Pro10792=
ENST00000342992.10:c.51291A>C (TTN)	ENSP00000343764.6:p.Pro17097=
ENST00000359218.9:c.32175A>C (TTN)	ENSP00000352154.5:p.Pro10725=
ENST00000460472.6:c.31800A>C (TTN)	ENSP00000434586.1:p.Pro10600=
ENST00000589042.5:c.58995A>C (TTN) MANE Select	ENSP00000467141.1:p.Pro19665=
ENST00000591111.5:c.54072A>C (TTN)	ENSP00000465570.1:p.Pro18024=
ENST00000615779.4:c.54072A>C (TTN)	ENSP00000483597.1:p.Pro18024=
NM_001256850.1:c.54072A>C (TTN)	NP_001243779.1:p.Pro18024=
NM_001267550.2:c.58995A>C (TTN) MANE Select	NP_001254479.2:p.Pro19665=
NM_003319.4:c.31800A>C (TTN)	NP_003310.4:p.Pro10600=
NM_133378.4:c.51291A>C (TTN)	NP_596869.4:p.Pro17097=
NM_133432.3:c.32175A>C (TTN)	NP_597676.3:p.Pro10725=
NM_133437.4:c.32376A>C (TTN)	NP_597681.4:p.Pro10792=
NR_038271.1:n.597-4383T>G (TTN-AS1)
NR_038272.1:n.3364+1899T>G (TTN-AS1)
XM_011511729.1:c.58092A>C (TTN)	XP_011510031.1:p.Pro19364=
XM_011511730.1:c.31986A>C (TTN)	XP_011510032.1:p.Pro10662=
XM_011511731.1:c.31845A>C (TTN)	XP_011510033.1:p.Pro10615=
XM_017004819.1:c.57888A>C (TTN)	XP_016860308.1:p.Pro19296=
XM_017004820.1:c.53286A>C (TTN)	XP_016860309.1:p.Pro17762=
XM_017004821.1:c.53283A>C (TTN)	XP_016860310.1:p.Pro17761=
XM_017004822.1:c.50325A>C (TTN)	XP_016860311.1:p.Pro16775=
XM_017004823.1:c.31941A>C (TTN)	XP_016860312.1:p.Pro10647=
XM_024453094.1:c.53436A>C (TTN)	XP_024308862.1:p.Pro17812=
XM_024453095.1:c.53433A>C (TTN)	XP_024308863.1:p.Pro17811=
XM_024453096.1:c.52866A>C (TTN)	XP_024308864.1:p.Pro17622=
XM_024453097.1:c.50208A>C (TTN)	XP_024308865.1:p.Pro16736=
XM_024453098.1:c.50127A>C (TTN)	XP_024308866.1:p.Pro16709=
XM_024453099.1:c.31890A>C (TTN)	XP_024308867.1:p.Pro10630=
XM_024453100.1:c.21744A>C (TTN)	XP_024308868.1:p.Pro7248=