Canonical Allele Identifier: CA430249343

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178562078-T-C
• MyVariant Identifiers: chr2:g.179426805T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178562078T>C , CM000664.2:g.178562078T>C	GRCh38
NC_000002.11:g.179426805T>C , CM000664.1:g.179426805T>C	GRCh37
NC_000002.10:g.179135051T>C	NCBI36
NG_011618.3:g.273725A>G , LRG_391:g.273725A>G
NG_051363.1:g.44252T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.76350A>G (TTN)	ENSP00000343764.6:p.Thr25450=
ENST00000342175.11:c.57435A>G (TTN)	ENSP00000340554.6:p.Thr19145=
ENST00000359218.10:c.57234A>G (TTN)	ENSP00000352154.5:p.Thr19078=
ENST00000342175.10:c.57435A>G (TTN)	ENSP00000340554.6:p.Thr19145=
ENST00000342992.10:c.76350A>G (TTN)	ENSP00000343764.6:p.Thr25450=
ENST00000359218.9:c.57234A>G (TTN)	ENSP00000352154.5:p.Thr19078=
ENST00000460472.6:c.56859A>G (TTN)	ENSP00000434586.1:p.Thr18953=
ENST00000589042.5:c.84054A>G (TTN) MANE Select	ENSP00000467141.1:p.Thr28018=
ENST00000591111.5:c.79131A>G (TTN)	ENSP00000465570.1:p.Thr26377=
ENST00000615779.4:c.79131A>G (TTN)	ENSP00000483597.1:p.Thr26377=
NM_001256850.1:c.79131A>G (TTN)	NP_001243779.1:p.Thr26377=
NM_001267550.2:c.84054A>G (TTN) MANE Select	NP_001254479.2:p.Thr28018=
NM_003319.4:c.56859A>G (TTN)	NP_003310.4:p.Thr18953=
NM_133378.4:c.76350A>G (TTN)	NP_596869.4:p.Thr25450=
NM_133432.3:c.57234A>G (TTN)	NP_597676.3:p.Thr19078=
NM_133437.4:c.57435A>G (TTN)	NP_597681.4:p.Thr19145=
NR_038271.1:n.447-9222T>C (TTN-AS1)
NR_038272.1:n.2043+19717T>C (TTN-AS1)
XM_011511729.1:c.83151A>G (TTN)	XP_011510031.1:p.Thr27717=
XM_011511730.1:c.57045A>G (TTN)	XP_011510032.1:p.Thr19015=
XM_011511731.1:c.56904A>G (TTN)	XP_011510033.1:p.Thr18968=
XM_017004819.1:c.82947A>G (TTN)	XP_016860308.1:p.Thr27649=
XM_017004820.1:c.78345A>G (TTN)	XP_016860309.1:p.Thr26115=
XM_017004821.1:c.78342A>G (TTN)	XP_016860310.1:p.Thr26114=
XM_017004822.1:c.75384A>G (TTN)	XP_016860311.1:p.Thr25128=
XM_017004823.1:c.57000A>G (TTN)	XP_016860312.1:p.Thr19000=
XM_024453094.1:c.78495A>G (TTN)	XP_024308862.1:p.Thr26165=
XM_024453095.1:c.78492A>G (TTN)	XP_024308863.1:p.Thr26164=
XM_024453096.1:c.77925A>G (TTN)	XP_024308864.1:p.Thr25975=
XM_024453097.1:c.75267A>G (TTN)	XP_024308865.1:p.Thr25089=
XM_024453098.1:c.75186A>G (TTN)	XP_024308866.1:p.Thr25062=
XM_024453099.1:c.56949A>G (TTN)	XP_024308867.1:p.Thr18983=
XM_024453100.1:c.46803A>G (TTN)	XP_024308868.1:p.Thr15601=