Canonical Allele Identifier: CA184814

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 179634
• ClinVar RCV Id: RCV000156429
• dbSNP Id: rs727505008
• ExAC: 2:179391818 C / T
• gnomAD v2: 2-179391818-C-T
• gnomAD v4: 2-178527091-C-T
• MyVariant Identifiers: chr2:g.179391818C>T (hg19) ; chr2:g.178527091C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178527091C>T , CM000664.2:g.178527091C>T	GRCh38
NC_000002.11:g.179391818C>T , CM000664.1:g.179391818C>T	GRCh37
NC_000002.10:g.179100064C>T	NCBI36
NG_011618.3:g.308712G>A , LRG_391:g.308712G>A
NG_051363.1:g.9265C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.100193G>A (TTN)	ENSP00000343764.6:p.Gly33398Asp
ENST00000342175.11:c.81278G>A (TTN)	ENSP00000340554.6:p.Gly27093Asp
ENST00000359218.10:c.81077G>A (TTN)	ENSP00000352154.5:p.Gly27026Asp
ENST00000342175.10:c.81278G>A (TTN)	ENSP00000340554.6:p.Gly27093Asp
ENST00000342992.10:c.100193G>A (TTN)	ENSP00000343764.6:p.Gly33398Asp
ENST00000359218.9:c.81077G>A (TTN)	ENSP00000352154.5:p.Gly27026Asp
ENST00000460472.6:c.80702G>A (TTN)	ENSP00000434586.1:p.Gly26901Asp
ENST00000589042.5:c.107897G>A (TTN) MANE Select	ENSP00000467141.1:p.Gly35966Asp
ENST00000591111.5:c.102974G>A (TTN)	ENSP00000465570.1:p.Gly34325Asp
ENST00000615779.4:c.102974G>A (TTN)	ENSP00000483597.1:p.Gly34325Asp
NM_001256850.1:c.102974G>A (TTN)	NP_001243779.1:p.Gly34325Asp
NM_001267550.2:c.107897G>A (TTN) MANE Select	NP_001254479.2:p.Gly35966Asp
NM_003319.4:c.80702G>A (TTN)	NP_003310.4:p.Gly26901Asp
NM_133378.4:c.100193G>A (TTN)	NP_596869.4:p.Gly33398Asp
NM_133432.3:c.81077G>A (TTN)	NP_597676.3:p.Gly27026Asp
NM_133437.4:c.81278G>A (TTN)	NP_597681.4:p.Gly27093Asp
NR_038271.1:n.446+3455C>T (TTN-AS1)
NR_038272.1:n.219+3455C>T (TTN-AS1)
XM_011511729.1:c.106994G>A (TTN)	XP_011510031.1:p.Gly35665Asp
XM_011511730.1:c.80888G>A (TTN)	XP_011510032.1:p.Gly26963Asp
XM_011511731.1:c.80747G>A (TTN)	XP_011510033.1:p.Gly26916Asp
XM_017004819.1:c.106790G>A (TTN)	XP_016860308.1:p.Gly35597Asp
XM_017004820.1:c.102188G>A (TTN)	XP_016860309.1:p.Gly34063Asp
XM_017004821.1:c.102185G>A (TTN)	XP_016860310.1:p.Gly34062Asp
XM_017004822.1:c.99227G>A (TTN)	XP_016860311.1:p.Gly33076Asp
XM_017004823.1:c.80843G>A (TTN)	XP_016860312.1:p.Gly26948Asp
XM_024453094.1:c.102338G>A (TTN)	XP_024308862.1:p.Gly34113Asp
XM_024453095.1:c.102335G>A (TTN)	XP_024308863.1:p.Gly34112Asp
XM_024453096.1:c.101768G>A (TTN)	XP_024308864.1:p.Gly33923Asp
XM_024453097.1:c.99110G>A (TTN)	XP_024308865.1:p.Gly33037Asp
XM_024453098.1:c.99029G>A (TTN)	XP_024308866.1:p.Gly33010Asp
XM_024453099.1:c.80792G>A (TTN)	XP_024308867.1:p.Gly26931Asp
XM_024453100.1:c.70646G>A (TTN)	XP_024308868.1:p.Gly23549Asp