Canonical Allele Identifier: CA430241639

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178543913-C-T
• MyVariant Identifiers: chr2:g.179408640C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543913C>T , CM000664.2:g.178543913C>T	GRCh38
NC_000002.11:g.179408640C>T , CM000664.1:g.179408640C>T	GRCh37
NC_000002.10:g.179116886C>T	NCBI36
NG_011618.3:g.291890G>A , LRG_391:g.291890G>A
NG_051363.1:g.26087C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88527G>A (TTN)	ENSP00000343764.6:p.Arg29509=
ENST00000342175.11:c.69612G>A (TTN)	ENSP00000340554.6:p.Arg23204=
ENST00000359218.10:c.69411G>A (TTN)	ENSP00000352154.5:p.Arg23137=
ENST00000342175.10:c.69612G>A (TTN)	ENSP00000340554.6:p.Arg23204=
ENST00000342992.10:c.88527G>A (TTN)	ENSP00000343764.6:p.Arg29509=
ENST00000359218.9:c.69411G>A (TTN)	ENSP00000352154.5:p.Arg23137=
ENST00000460472.6:c.69036G>A (TTN)	ENSP00000434586.1:p.Arg23012=
ENST00000589042.5:c.96231G>A (TTN) MANE Select	ENSP00000467141.1:p.Arg32077=
ENST00000591111.5:c.91308G>A (TTN)	ENSP00000465570.1:p.Arg30436=
ENST00000615779.4:c.91308G>A (TTN)	ENSP00000483597.1:p.Arg30436=
NM_001256850.1:c.91308G>A (TTN)	NP_001243779.1:p.Arg30436=
NM_001267550.2:c.96231G>A (TTN) MANE Select	NP_001254479.2:p.Arg32077=
NM_003319.4:c.69036G>A (TTN)	NP_003310.4:p.Arg23012=
NM_133378.4:c.88527G>A (TTN)	NP_596869.4:p.Arg29509=
NM_133432.3:c.69411G>A (TTN)	NP_597676.3:p.Arg23137=
NM_133437.4:c.69612G>A (TTN)	NP_597681.4:p.Arg23204=
NR_038271.1:n.446+20277C>T (TTN-AS1)
NR_038272.1:n.2043+1552C>T (TTN-AS1)
XM_011511729.1:c.95328G>A (TTN)	XP_011510031.1:p.Arg31776=
XM_011511730.1:c.69222G>A (TTN)	XP_011510032.1:p.Arg23074=
XM_011511731.1:c.69081G>A (TTN)	XP_011510033.1:p.Arg23027=
XM_017004819.1:c.95124G>A (TTN)	XP_016860308.1:p.Arg31708=
XM_017004820.1:c.90522G>A (TTN)	XP_016860309.1:p.Arg30174=
XM_017004821.1:c.90519G>A (TTN)	XP_016860310.1:p.Arg30173=
XM_017004822.1:c.87561G>A (TTN)	XP_016860311.1:p.Arg29187=
XM_017004823.1:c.69177G>A (TTN)	XP_016860312.1:p.Arg23059=
XM_024453094.1:c.90672G>A (TTN)	XP_024308862.1:p.Arg30224=
XM_024453095.1:c.90669G>A (TTN)	XP_024308863.1:p.Arg30223=
XM_024453096.1:c.90102G>A (TTN)	XP_024308864.1:p.Arg30034=
XM_024453097.1:c.87444G>A (TTN)	XP_024308865.1:p.Arg29148=
XM_024453098.1:c.87363G>A (TTN)	XP_024308866.1:p.Arg29121=
XM_024453099.1:c.69126G>A (TTN)	XP_024308867.1:p.Arg23042=
XM_024453100.1:c.58980G>A (TTN)	XP_024308868.1:p.Arg19660=