Canonical Allele Identifier: CA1985129

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1053778
• ClinVar RCV Id: RCV001362164
• dbSNP Id: rs755067124
• ExAC: 2:179395030 T / C
• gnomAD v2: 2-179395030-T-C
• gnomAD v3: 2-178530303-T-C
• gnomAD v4: 2-178530303-T-C
• MyVariant Identifiers: chr2:g.179395030T>C (hg19) ; chr2:g.178530303T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530303T>C , CM000664.2:g.178530303T>C	GRCh38
NC_000002.11:g.179395030T>C , CM000664.1:g.179395030T>C	GRCh37
NC_000002.10:g.179103276T>C	NCBI36
NG_011618.3:g.305500A>G , LRG_391:g.305500A>G
NG_051363.1:g.12477T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98608A>G (TTN)	ENSP00000343764.6:p.Lys32870Glu
ENST00000342175.11:c.79693A>G (TTN)	ENSP00000340554.6:p.Lys26565Glu
ENST00000359218.10:c.79492A>G (TTN)	ENSP00000352154.5:p.Lys26498Glu
ENST00000342175.10:c.79693A>G (TTN)	ENSP00000340554.6:p.Lys26565Glu
ENST00000342992.10:c.98608A>G (TTN)	ENSP00000343764.6:p.Lys32870Glu
ENST00000359218.9:c.79492A>G (TTN)	ENSP00000352154.5:p.Lys26498Glu
ENST00000460472.6:c.79117A>G (TTN)	ENSP00000434586.1:p.Lys26373Glu
ENST00000589042.5:c.106312A>G (TTN) MANE Select	ENSP00000467141.1:p.Lys35438Glu
ENST00000591111.5:c.101389A>G (TTN)	ENSP00000465570.1:p.Lys33797Glu
ENST00000615779.4:c.101389A>G (TTN)	ENSP00000483597.1:p.Lys33797Glu
NM_001256850.1:c.101389A>G (TTN)	NP_001243779.1:p.Lys33797Glu
NM_001267550.2:c.106312A>G (TTN) MANE Select	NP_001254479.2:p.Lys35438Glu
NM_003319.4:c.79117A>G (TTN)	NP_003310.4:p.Lys26373Glu
NM_133378.4:c.98608A>G (TTN)	NP_596869.4:p.Lys32870Glu
NM_133432.3:c.79492A>G (TTN)	NP_597676.3:p.Lys26498Glu
NM_133437.4:c.79693A>G (TTN)	NP_597681.4:p.Lys26565Glu
NR_038271.1:n.446+6667T>C (TTN-AS1)
NR_038272.1:n.220-5429T>C (TTN-AS1)
XM_011511729.1:c.105409A>G (TTN)	XP_011510031.1:p.Lys35137Glu
XM_011511730.1:c.79303A>G (TTN)	XP_011510032.1:p.Lys26435Glu
XM_011511731.1:c.79162A>G (TTN)	XP_011510033.1:p.Lys26388Glu
XM_017004819.1:c.105205A>G (TTN)	XP_016860308.1:p.Lys35069Glu
XM_017004820.1:c.100603A>G (TTN)	XP_016860309.1:p.Lys33535Glu
XM_017004821.1:c.100600A>G (TTN)	XP_016860310.1:p.Lys33534Glu
XM_017004822.1:c.97642A>G (TTN)	XP_016860311.1:p.Lys32548Glu
XM_017004823.1:c.79258A>G (TTN)	XP_016860312.1:p.Lys26420Glu
XM_024453094.1:c.100753A>G (TTN)	XP_024308862.1:p.Lys33585Glu
XM_024453095.1:c.100750A>G (TTN)	XP_024308863.1:p.Lys33584Glu
XM_024453096.1:c.100183A>G (TTN)	XP_024308864.1:p.Lys33395Glu
XM_024453097.1:c.97525A>G (TTN)	XP_024308865.1:p.Lys32509Glu
XM_024453098.1:c.97444A>G (TTN)	XP_024308866.1:p.Lys32482Glu
XM_024453099.1:c.79207A>G (TTN)	XP_024308867.1:p.Lys26403Glu
XM_024453100.1:c.69061A>G (TTN)	XP_024308868.1:p.Lys23021Glu