Canonical Allele Identifier: CA349446109

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178543305-C-T
• COSMIC: COSM441576 ; COSM441577 ; COSM441578 ; COSM1134112
• MyVariant Identifiers: chr2:g.179408032C>T (hg19) ; chr2:g.178543305C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543305C>T , CM000664.2:g.178543305C>T	GRCh38
NC_000002.11:g.179408032C>T , CM000664.1:g.179408032C>T	GRCh37
NC_000002.10:g.179116278C>T	NCBI36
NG_011618.3:g.292498G>A , LRG_391:g.292498G>A
NG_051363.1:g.25479C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88964G>A (TTN)	ENSP00000343764.6:p.Trp29655Ter
ENST00000342175.11:c.70049G>A (TTN)	ENSP00000340554.6:p.Trp23350Ter
ENST00000359218.10:c.69848G>A (TTN)	ENSP00000352154.5:p.Trp23283Ter
ENST00000342175.10:c.70049G>A (TTN)	ENSP00000340554.6:p.Trp23350Ter
ENST00000342992.10:c.88964G>A (TTN)	ENSP00000343764.6:p.Trp29655Ter
ENST00000359218.9:c.69848G>A (TTN)	ENSP00000352154.5:p.Trp23283Ter
ENST00000460472.6:c.69473G>A (TTN)	ENSP00000434586.1:p.Trp23158Ter
ENST00000589042.5:c.96668G>A (TTN) MANE Select	ENSP00000467141.1:p.Trp32223Ter
ENST00000591111.5:c.91745G>A (TTN)	ENSP00000465570.1:p.Trp30582Ter
ENST00000615779.4:c.91745G>A (TTN)	ENSP00000483597.1:p.Trp30582Ter
NM_001256850.1:c.91745G>A (TTN)	NP_001243779.1:p.Trp30582Ter
NM_001267550.2:c.96668G>A (TTN) MANE Select	NP_001254479.2:p.Trp32223Ter
NM_003319.4:c.69473G>A (TTN)	NP_003310.4:p.Trp23158Ter
NM_133378.4:c.88964G>A (TTN)	NP_596869.4:p.Trp29655Ter
NM_133432.3:c.69848G>A (TTN)	NP_597676.3:p.Trp23283Ter
NM_133437.4:c.70049G>A (TTN)	NP_597681.4:p.Trp23350Ter
NR_038271.1:n.446+19669C>T (TTN-AS1)
NR_038272.1:n.2043+944C>T (TTN-AS1)
XM_011511729.1:c.95765G>A (TTN)	XP_011510031.1:p.Trp31922Ter
XM_011511730.1:c.69659G>A (TTN)	XP_011510032.1:p.Trp23220Ter
XM_011511731.1:c.69518G>A (TTN)	XP_011510033.1:p.Trp23173Ter
XM_017004819.1:c.95561G>A (TTN)	XP_016860308.1:p.Trp31854Ter
XM_017004820.1:c.90959G>A (TTN)	XP_016860309.1:p.Trp30320Ter
XM_017004821.1:c.90956G>A (TTN)	XP_016860310.1:p.Trp30319Ter
XM_017004822.1:c.87998G>A (TTN)	XP_016860311.1:p.Trp29333Ter
XM_017004823.1:c.69614G>A (TTN)	XP_016860312.1:p.Trp23205Ter
XM_024453094.1:c.91109G>A (TTN)	XP_024308862.1:p.Trp30370Ter
XM_024453095.1:c.91106G>A (TTN)	XP_024308863.1:p.Trp30369Ter
XM_024453096.1:c.90539G>A (TTN)	XP_024308864.1:p.Trp30180Ter
XM_024453097.1:c.87881G>A (TTN)	XP_024308865.1:p.Trp29294Ter
XM_024453098.1:c.87800G>A (TTN)	XP_024308866.1:p.Trp29267Ter
XM_024453099.1:c.69563G>A (TTN)	XP_024308867.1:p.Trp23188Ter
XM_024453100.1:c.59417G>A (TTN)	XP_024308868.1:p.Trp19806Ter