Canonical Allele Identifier: CA349456843

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 2032244
• ClinVar RCV Id: RCV002876843
• MyVariant Identifiers: chr2:g.179409108C>A (hg19) ; chr2:g.178544381C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544381C>A , CM000664.2:g.178544381C>A	GRCh38
NC_000002.11:g.179409108C>A , CM000664.1:g.179409108C>A	GRCh37
NC_000002.10:g.179117354C>A	NCBI36
NG_011618.3:g.291422G>T , LRG_391:g.291422G>T
NG_051363.1:g.26555C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88144G>T (TTN)	ENSP00000343764.6:p.Glu29382Ter
ENST00000342175.11:c.69229G>T (TTN)	ENSP00000340554.6:p.Glu23077Ter
ENST00000359218.10:c.69028G>T (TTN)	ENSP00000352154.5:p.Glu23010Ter
ENST00000342175.10:c.69229G>T (TTN)	ENSP00000340554.6:p.Glu23077Ter
ENST00000342992.10:c.88144G>T (TTN)	ENSP00000343764.6:p.Glu29382Ter
ENST00000359218.9:c.69028G>T (TTN)	ENSP00000352154.5:p.Glu23010Ter
ENST00000460472.6:c.68653G>T (TTN)	ENSP00000434586.1:p.Glu22885Ter
ENST00000589042.5:c.95848G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu31950Ter
ENST00000591111.5:c.90925G>T (TTN)	ENSP00000465570.1:p.Glu30309Ter
ENST00000615779.4:c.90925G>T (TTN)	ENSP00000483597.1:p.Glu30309Ter
NM_001256850.1:c.90925G>T (TTN)	NP_001243779.1:p.Glu30309Ter
NM_001267550.2:c.95848G>T (TTN) MANE Select	NP_001254479.2:p.Glu31950Ter
NM_003319.4:c.68653G>T (TTN)	NP_003310.4:p.Glu22885Ter
NM_133378.4:c.88144G>T (TTN)	NP_596869.4:p.Glu29382Ter
NM_133432.3:c.69028G>T (TTN)	NP_597676.3:p.Glu23010Ter
NM_133437.4:c.69229G>T (TTN)	NP_597681.4:p.Glu23077Ter
NR_038271.1:n.446+20745C>A (TTN-AS1)
NR_038272.1:n.2043+2020C>A (TTN-AS1)
XM_011511729.1:c.94945G>T (TTN)	XP_011510031.1:p.Glu31649Ter
XM_011511730.1:c.68839G>T (TTN)	XP_011510032.1:p.Glu22947Ter
XM_011511731.1:c.68698G>T (TTN)	XP_011510033.1:p.Glu22900Ter
XM_017004819.1:c.94741G>T (TTN)	XP_016860308.1:p.Glu31581Ter
XM_017004820.1:c.90139G>T (TTN)	XP_016860309.1:p.Glu30047Ter
XM_017004821.1:c.90136G>T (TTN)	XP_016860310.1:p.Glu30046Ter
XM_017004822.1:c.87178G>T (TTN)	XP_016860311.1:p.Glu29060Ter
XM_017004823.1:c.68794G>T (TTN)	XP_016860312.1:p.Glu22932Ter
XM_024453094.1:c.90289G>T (TTN)	XP_024308862.1:p.Glu30097Ter
XM_024453095.1:c.90286G>T (TTN)	XP_024308863.1:p.Glu30096Ter
XM_024453096.1:c.89719G>T (TTN)	XP_024308864.1:p.Glu29907Ter
XM_024453097.1:c.87061G>T (TTN)	XP_024308865.1:p.Glu29021Ter
XM_024453098.1:c.86980G>T (TTN)	XP_024308866.1:p.Glu28994Ter
XM_024453099.1:c.68743G>T (TTN)	XP_024308867.1:p.Glu22915Ter
XM_024453100.1:c.58597G>T (TTN)	XP_024308868.1:p.Glu19533Ter