Canonical Allele Identifier: CA430240511

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178539953-A-G
• MyVariant Identifiers: chr2:g.179404680A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178539953A>G , CM000664.2:g.178539953A>G	GRCh38
NC_000002.11:g.179404680A>G , CM000664.1:g.179404680A>G	GRCh37
NC_000002.10:g.179112926A>G	NCBI36
NG_011618.3:g.295850T>C , LRG_391:g.295850T>C
NG_051363.1:g.22127A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.90408T>C (TTN)	ENSP00000343764.6:p.Tyr30136=
ENST00000342175.11:c.71493T>C (TTN)	ENSP00000340554.6:p.Tyr23831=
ENST00000359218.10:c.71292T>C (TTN)	ENSP00000352154.5:p.Tyr23764=
ENST00000342175.10:c.71493T>C (TTN)	ENSP00000340554.6:p.Tyr23831=
ENST00000342992.10:c.90408T>C (TTN)	ENSP00000343764.6:p.Tyr30136=
ENST00000359218.9:c.71292T>C (TTN)	ENSP00000352154.5:p.Tyr23764=
ENST00000460472.6:c.70917T>C (TTN)	ENSP00000434586.1:p.Tyr23639=
ENST00000589042.5:c.98112T>C (TTN) MANE Select	ENSP00000467141.1:p.Tyr32704=
ENST00000591111.5:c.93189T>C (TTN)	ENSP00000465570.1:p.Tyr31063=
ENST00000615779.4:c.93189T>C (TTN)	ENSP00000483597.1:p.Tyr31063=
NM_001256850.1:c.93189T>C (TTN)	NP_001243779.1:p.Tyr31063=
NM_001267550.2:c.98112T>C (TTN) MANE Select	NP_001254479.2:p.Tyr32704=
NM_003319.4:c.70917T>C (TTN)	NP_003310.4:p.Tyr23639=
NM_133378.4:c.90408T>C (TTN)	NP_596869.4:p.Tyr30136=
NM_133432.3:c.71292T>C (TTN)	NP_597676.3:p.Tyr23764=
NM_133437.4:c.71493T>C (TTN)	NP_597681.4:p.Tyr23831=
NR_038271.1:n.446+16317A>G (TTN-AS1)
NR_038272.1:n.1840+63A>G (TTN-AS1)
XM_011511729.1:c.97209T>C (TTN)	XP_011510031.1:p.Tyr32403=
XM_011511730.1:c.71103T>C (TTN)	XP_011510032.1:p.Tyr23701=
XM_011511731.1:c.70962T>C (TTN)	XP_011510033.1:p.Tyr23654=
XM_017004819.1:c.97005T>C (TTN)	XP_016860308.1:p.Tyr32335=
XM_017004820.1:c.92403T>C (TTN)	XP_016860309.1:p.Tyr30801=
XM_017004821.1:c.92400T>C (TTN)	XP_016860310.1:p.Tyr30800=
XM_017004822.1:c.89442T>C (TTN)	XP_016860311.1:p.Tyr29814=
XM_017004823.1:c.71058T>C (TTN)	XP_016860312.1:p.Tyr23686=
XM_024453094.1:c.92553T>C (TTN)	XP_024308862.1:p.Tyr30851=
XM_024453095.1:c.92550T>C (TTN)	XP_024308863.1:p.Tyr30850=
XM_024453096.1:c.91983T>C (TTN)	XP_024308864.1:p.Tyr30661=
XM_024453097.1:c.89325T>C (TTN)	XP_024308865.1:p.Tyr29775=
XM_024453098.1:c.89244T>C (TTN)	XP_024308866.1:p.Tyr29748=
XM_024453099.1:c.71007T>C (TTN)	XP_024308867.1:p.Tyr23669=
XM_024453100.1:c.60861T>C (TTN)	XP_024308868.1:p.Tyr20287=