Canonical Allele Identifier: CA430244843

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 2038068
• ClinVar RCV Id: RCV002890441
• gnomAD v4: 2-178549817-C-T
• MyVariant Identifiers: chr2:g.179414544C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178549817C>T , CM000664.2:g.178549817C>T	GRCh38
NC_000002.11:g.179414544C>T , CM000664.1:g.179414544C>T	GRCh37
NC_000002.10:g.179122790C>T	NCBI36
NG_011618.3:g.285986G>A , LRG_391:g.285986G>A
NG_051363.1:g.31991C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.84201G>A (TTN)	ENSP00000343764.6:p.Glu28067=
ENST00000342175.11:c.65286G>A (TTN)	ENSP00000340554.6:p.Glu21762=
ENST00000359218.10:c.65085G>A (TTN)	ENSP00000352154.5:p.Glu21695=
ENST00000342175.10:c.65286G>A (TTN)	ENSP00000340554.6:p.Glu21762=
ENST00000342992.10:c.84201G>A (TTN)	ENSP00000343764.6:p.Glu28067=
ENST00000359218.9:c.65085G>A (TTN)	ENSP00000352154.5:p.Glu21695=
ENST00000460472.6:c.64710G>A (TTN)	ENSP00000434586.1:p.Glu21570=
ENST00000589042.5:c.91905G>A (TTN) MANE Select	ENSP00000467141.1:p.Glu30635=
ENST00000591111.5:c.86982G>A (TTN)	ENSP00000465570.1:p.Glu28994=
ENST00000615779.4:c.86982G>A (TTN)	ENSP00000483597.1:p.Glu28994=
NM_001256850.1:c.86982G>A (TTN)	NP_001243779.1:p.Glu28994=
NM_001267550.2:c.91905G>A (TTN) MANE Select	NP_001254479.2:p.Glu30635=
NM_003319.4:c.64710G>A (TTN)	NP_003310.4:p.Glu21570=
NM_133378.4:c.84201G>A (TTN)	NP_596869.4:p.Glu28067=
NM_133432.3:c.65085G>A (TTN)	NP_597676.3:p.Glu21695=
NM_133437.4:c.65286G>A (TTN)	NP_597681.4:p.Glu21762=
NR_038271.1:n.447-21483C>T (TTN-AS1)
NR_038272.1:n.2043+7456C>T (TTN-AS1)
XM_011511729.1:c.91002G>A (TTN)	XP_011510031.1:p.Glu30334=
XM_011511730.1:c.64896G>A (TTN)	XP_011510032.1:p.Glu21632=
XM_011511731.1:c.64755G>A (TTN)	XP_011510033.1:p.Glu21585=
XM_017004819.1:c.90798G>A (TTN)	XP_016860308.1:p.Glu30266=
XM_017004820.1:c.86196G>A (TTN)	XP_016860309.1:p.Glu28732=
XM_017004821.1:c.86193G>A (TTN)	XP_016860310.1:p.Glu28731=
XM_017004822.1:c.83235G>A (TTN)	XP_016860311.1:p.Glu27745=
XM_017004823.1:c.64851G>A (TTN)	XP_016860312.1:p.Glu21617=
XM_024453094.1:c.86346G>A (TTN)	XP_024308862.1:p.Glu28782=
XM_024453095.1:c.86343G>A (TTN)	XP_024308863.1:p.Glu28781=
XM_024453096.1:c.85776G>A (TTN)	XP_024308864.1:p.Glu28592=
XM_024453097.1:c.83118G>A (TTN)	XP_024308865.1:p.Glu27706=
XM_024453098.1:c.83037G>A (TTN)	XP_024308866.1:p.Glu27679=
XM_024453099.1:c.64800G>A (TTN)	XP_024308867.1:p.Glu21600=
XM_024453100.1:c.54654G>A (TTN)	XP_024308868.1:p.Glu18218=