Canonical Allele Identifier: CA430244863

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1183010396
• gnomAD v3: 2-178549847-C-T
• gnomAD v4: 2-178549847-C-T
• MyVariant Identifiers: chr2:g.179414574C>T (hg19) ; chr2:g.178549847C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178549847C>T , CM000664.2:g.178549847C>T	GRCh38
NC_000002.11:g.179414574C>T , CM000664.1:g.179414574C>T	GRCh37
NC_000002.10:g.179122820C>T	NCBI36
NG_011618.3:g.285956G>A , LRG_391:g.285956G>A
NG_051363.1:g.32021C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.84171G>A (TTN)	ENSP00000343764.6:p.Gly28057=
ENST00000342175.11:c.65256G>A (TTN)	ENSP00000340554.6:p.Gly21752=
ENST00000359218.10:c.65055G>A (TTN)	ENSP00000352154.5:p.Gly21685=
ENST00000342175.10:c.65256G>A (TTN)	ENSP00000340554.6:p.Gly21752=
ENST00000342992.10:c.84171G>A (TTN)	ENSP00000343764.6:p.Gly28057=
ENST00000359218.9:c.65055G>A (TTN)	ENSP00000352154.5:p.Gly21685=
ENST00000460472.6:c.64680G>A (TTN)	ENSP00000434586.1:p.Gly21560=
ENST00000589042.5:c.91875G>A (TTN) MANE Select	ENSP00000467141.1:p.Gly30625=
ENST00000591111.5:c.86952G>A (TTN)	ENSP00000465570.1:p.Gly28984=
ENST00000615779.4:c.86952G>A (TTN)	ENSP00000483597.1:p.Gly28984=
NM_001256850.1:c.86952G>A (TTN)	NP_001243779.1:p.Gly28984=
NM_001267550.2:c.91875G>A (TTN) MANE Select	NP_001254479.2:p.Gly30625=
NM_003319.4:c.64680G>A (TTN)	NP_003310.4:p.Gly21560=
NM_133378.4:c.84171G>A (TTN)	NP_596869.4:p.Gly28057=
NM_133432.3:c.65055G>A (TTN)	NP_597676.3:p.Gly21685=
NM_133437.4:c.65256G>A (TTN)	NP_597681.4:p.Gly21752=
NR_038271.1:n.447-21453C>T (TTN-AS1)
NR_038272.1:n.2043+7486C>T (TTN-AS1)
XM_011511729.1:c.90972G>A (TTN)	XP_011510031.1:p.Gly30324=
XM_011511730.1:c.64866G>A (TTN)	XP_011510032.1:p.Gly21622=
XM_011511731.1:c.64725G>A (TTN)	XP_011510033.1:p.Gly21575=
XM_017004819.1:c.90768G>A (TTN)	XP_016860308.1:p.Gly30256=
XM_017004820.1:c.86166G>A (TTN)	XP_016860309.1:p.Gly28722=
XM_017004821.1:c.86163G>A (TTN)	XP_016860310.1:p.Gly28721=
XM_017004822.1:c.83205G>A (TTN)	XP_016860311.1:p.Gly27735=
XM_017004823.1:c.64821G>A (TTN)	XP_016860312.1:p.Gly21607=
XM_024453094.1:c.86316G>A (TTN)	XP_024308862.1:p.Gly28772=
XM_024453095.1:c.86313G>A (TTN)	XP_024308863.1:p.Gly28771=
XM_024453096.1:c.85746G>A (TTN)	XP_024308864.1:p.Gly28582=
XM_024453097.1:c.83088G>A (TTN)	XP_024308865.1:p.Gly27696=
XM_024453098.1:c.83007G>A (TTN)	XP_024308866.1:p.Gly27669=
XM_024453099.1:c.64770G>A (TTN)	XP_024308867.1:p.Gly21590=
XM_024453100.1:c.54624G>A (TTN)	XP_024308868.1:p.Gly18208=