Canonical Allele Identifier: CA430251227

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 500019
• ClinVar RCV Id: RCV000597961 ; RCV002062061
• dbSNP Id: rs1553576452
• gnomAD v4: 2-178564421-T-C
• MyVariant Identifiers: chr2:g.179429148T>C (hg19) ; chr2:g.178564421T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178564421T>C , CM000664.2:g.178564421T>C	GRCh38
NC_000002.11:g.179429148T>C , CM000664.1:g.179429148T>C	GRCh37
NC_000002.10:g.179137394T>C	NCBI36
NG_011618.3:g.271382A>G , LRG_391:g.271382A>G
NG_051363.1:g.46595T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.74007A>G (TTN)	ENSP00000343764.6:p.Glu24669=
ENST00000342175.11:c.55092A>G (TTN)	ENSP00000340554.6:p.Glu18364=
ENST00000359218.10:c.54891A>G (TTN)	ENSP00000352154.5:p.Glu18297=
ENST00000342175.10:c.55092A>G (TTN)	ENSP00000340554.6:p.Glu18364=
ENST00000342992.10:c.74007A>G (TTN)	ENSP00000343764.6:p.Glu24669=
ENST00000359218.9:c.54891A>G (TTN)	ENSP00000352154.5:p.Glu18297=
ENST00000460472.6:c.54516A>G (TTN)	ENSP00000434586.1:p.Glu18172=
ENST00000589042.5:c.81711A>G (TTN) MANE Select	ENSP00000467141.1:p.Glu27237=
ENST00000591111.5:c.76788A>G (TTN)	ENSP00000465570.1:p.Glu25596=
ENST00000615779.4:c.76788A>G (TTN)	ENSP00000483597.1:p.Glu25596=
NM_001256850.1:c.76788A>G (TTN)	NP_001243779.1:p.Glu25596=
NM_001267550.2:c.81711A>G (TTN) MANE Select	NP_001254479.2:p.Glu27237=
NM_003319.4:c.54516A>G (TTN)	NP_003310.4:p.Glu18172=
NM_133378.4:c.74007A>G (TTN)	NP_596869.4:p.Glu24669=
NM_133432.3:c.54891A>G (TTN)	NP_597676.3:p.Glu18297=
NM_133437.4:c.55092A>G (TTN)	NP_597681.4:p.Glu18364=
NR_038271.1:n.447-6879T>C (TTN-AS1)
NR_038272.1:n.2044-18151T>C (TTN-AS1)
XM_011511729.1:c.80808A>G (TTN)	XP_011510031.1:p.Glu26936=
XM_011511730.1:c.54702A>G (TTN)	XP_011510032.1:p.Glu18234=
XM_011511731.1:c.54561A>G (TTN)	XP_011510033.1:p.Glu18187=
XM_017004819.1:c.80604A>G (TTN)	XP_016860308.1:p.Glu26868=
XM_017004820.1:c.76002A>G (TTN)	XP_016860309.1:p.Glu25334=
XM_017004821.1:c.75999A>G (TTN)	XP_016860310.1:p.Glu25333=
XM_017004822.1:c.73041A>G (TTN)	XP_016860311.1:p.Glu24347=
XM_017004823.1:c.54657A>G (TTN)	XP_016860312.1:p.Glu18219=
XM_024453094.1:c.76152A>G (TTN)	XP_024308862.1:p.Glu25384=
XM_024453095.1:c.76149A>G (TTN)	XP_024308863.1:p.Glu25383=
XM_024453096.1:c.75582A>G (TTN)	XP_024308864.1:p.Glu25194=
XM_024453097.1:c.72924A>G (TTN)	XP_024308865.1:p.Glu24308=
XM_024453098.1:c.72843A>G (TTN)	XP_024308866.1:p.Glu24281=
XM_024453099.1:c.54606A>G (TTN)	XP_024308867.1:p.Glu18202=
XM_024453100.1:c.44460A>G (TTN)	XP_024308868.1:p.Glu14820=