Canonical Allele Identifier: CA1987528

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1753723
• ClinVar RCV Id: RCV002361960
• dbSNP Id: rs776885297
• ExAC: 2:179414507 C / T
• gnomAD v2: 2-179414507-C-T
• gnomAD v3: 2-178549780-C-T
• gnomAD v4: 2-178549780-C-T
• COSMIC: COSM1401845 ; COSM1401846 ; COSM1401847 ; COSM1401848
• MyVariant Identifiers: chr2:g.179414507C>T (hg19) ; chr2:g.178549780C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178549780C>T , CM000664.2:g.178549780C>T	GRCh38
NC_000002.11:g.179414507C>T , CM000664.1:g.179414507C>T	GRCh37
NC_000002.10:g.179122753C>T	NCBI36
NG_011618.3:g.286023G>A , LRG_391:g.286023G>A
NG_051363.1:g.31954C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.84238G>A (TTN)	ENSP00000343764.6:p.Gly28080Ser
ENST00000342175.11:c.65323G>A (TTN)	ENSP00000340554.6:p.Gly21775Ser
ENST00000359218.10:c.65122G>A (TTN)	ENSP00000352154.5:p.Gly21708Ser
ENST00000342175.10:c.65323G>A (TTN)	ENSP00000340554.6:p.Gly21775Ser
ENST00000342992.10:c.84238G>A (TTN)	ENSP00000343764.6:p.Gly28080Ser
ENST00000359218.9:c.65122G>A (TTN)	ENSP00000352154.5:p.Gly21708Ser
ENST00000460472.6:c.64747G>A (TTN)	ENSP00000434586.1:p.Gly21583Ser
ENST00000589042.5:c.91942G>A (TTN) MANE Select	ENSP00000467141.1:p.Gly30648Ser
ENST00000591111.5:c.87019G>A (TTN)	ENSP00000465570.1:p.Gly29007Ser
ENST00000615779.4:c.87019G>A (TTN)	ENSP00000483597.1:p.Gly29007Ser
NM_001256850.1:c.87019G>A (TTN)	NP_001243779.1:p.Gly29007Ser
NM_001267550.2:c.91942G>A (TTN) MANE Select	NP_001254479.2:p.Gly30648Ser
NM_003319.4:c.64747G>A (TTN)	NP_003310.4:p.Gly21583Ser
NM_133378.4:c.84238G>A (TTN)	NP_596869.4:p.Gly28080Ser
NM_133432.3:c.65122G>A (TTN)	NP_597676.3:p.Gly21708Ser
NM_133437.4:c.65323G>A (TTN)	NP_597681.4:p.Gly21775Ser
NR_038271.1:n.447-21520C>T (TTN-AS1)
NR_038272.1:n.2043+7419C>T (TTN-AS1)
XM_011511729.1:c.91039G>A (TTN)	XP_011510031.1:p.Gly30347Ser
XM_011511730.1:c.64933G>A (TTN)	XP_011510032.1:p.Gly21645Ser
XM_011511731.1:c.64792G>A (TTN)	XP_011510033.1:p.Gly21598Ser
XM_017004819.1:c.90835G>A (TTN)	XP_016860308.1:p.Gly30279Ser
XM_017004820.1:c.86233G>A (TTN)	XP_016860309.1:p.Gly28745Ser
XM_017004821.1:c.86230G>A (TTN)	XP_016860310.1:p.Gly28744Ser
XM_017004822.1:c.83272G>A (TTN)	XP_016860311.1:p.Gly27758Ser
XM_017004823.1:c.64888G>A (TTN)	XP_016860312.1:p.Gly21630Ser
XM_024453094.1:c.86383G>A (TTN)	XP_024308862.1:p.Gly28795Ser
XM_024453095.1:c.86380G>A (TTN)	XP_024308863.1:p.Gly28794Ser
XM_024453096.1:c.85813G>A (TTN)	XP_024308864.1:p.Gly28605Ser
XM_024453097.1:c.83155G>A (TTN)	XP_024308865.1:p.Gly27719Ser
XM_024453098.1:c.83074G>A (TTN)	XP_024308866.1:p.Gly27692Ser
XM_024453099.1:c.64837G>A (TTN)	XP_024308867.1:p.Gly21613Ser
XM_024453100.1:c.54691G>A (TTN)	XP_024308868.1:p.Gly18231Ser