Canonical Allele Identifier: CA430093917

Linked Data

MyVariant Identifiers: chr2:g.179394790G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530063G>A , CM000664.2:g.178530063G>A GRCh38
NC_000002.11:g.179394790G>A , CM000664.1:g.179394790G>A GRCh37
NC_000002.10:g.179103036G>A NCBI36
NG_011618.3:g.305740C>T , LRG_391:g.305740C>T
NG_051363.1:g.12237G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98724C>T (TTN) ENSP00000343764.6:p.Phe32908=
ENST00000342175.11:c.79809C>T (TTN) ENSP00000340554.6:p.Phe26603=
ENST00000359218.10:c.79608C>T (TTN) ENSP00000352154.5:p.Phe26536=
ENST00000342175.10:c.79809C>T (TTN) ENSP00000340554.6:p.Phe26603=
ENST00000342992.10:c.98724C>T (TTN) ENSP00000343764.6:p.Phe32908=
ENST00000359218.9:c.79608C>T (TTN) ENSP00000352154.5:p.Phe26536=
ENST00000460472.6:c.79233C>T (TTN) ENSP00000434586.1:p.Phe26411=
ENST00000589042.5:c.106428C>T (TTN) MANE Select ENSP00000467141.1:p.Phe35476=
ENST00000591111.5:c.101505C>T (TTN) ENSP00000465570.1:p.Phe33835=
ENST00000615779.4:c.101505C>T (TTN) ENSP00000483597.1:p.Phe33835=
NM_001256850.1:c.101505C>T (TTN) NP_001243779.1:p.Phe33835=
NM_001267550.2:c.106428C>T (TTN) MANE Select NP_001254479.2:p.Phe35476=
NM_003319.4:c.79233C>T (TTN) NP_003310.4:p.Phe26411=
NM_133378.4:c.98724C>T (TTN) NP_596869.4:p.Phe32908=
NM_133432.3:c.79608C>T (TTN) NP_597676.3:p.Phe26536=
NM_133437.4:c.79809C>T (TTN) NP_597681.4:p.Phe26603=
NR_038271.1:n.446+6427G>A (TTN-AS1)
NR_038272.1:n.220-5669G>A (TTN-AS1)
XM_011511729.1:c.105525C>T (TTN) XP_011510031.1:p.Phe35175=
XM_011511730.1:c.79419C>T (TTN) XP_011510032.1:p.Phe26473=
XM_011511731.1:c.79278C>T (TTN) XP_011510033.1:p.Phe26426=
XM_017004819.1:c.105321C>T (TTN) XP_016860308.1:p.Phe35107=
XM_017004820.1:c.100719C>T (TTN) XP_016860309.1:p.Phe33573=
XM_017004821.1:c.100716C>T (TTN) XP_016860310.1:p.Phe33572=
XM_017004822.1:c.97758C>T (TTN) XP_016860311.1:p.Phe32586=
XM_017004823.1:c.79374C>T (TTN) XP_016860312.1:p.Phe26458=
XM_024453094.1:c.100869C>T (TTN) XP_024308862.1:p.Phe33623=
XM_024453095.1:c.100866C>T (TTN) XP_024308863.1:p.Phe33622=
XM_024453096.1:c.100299C>T (TTN) XP_024308864.1:p.Phe33433=
XM_024453097.1:c.97641C>T (TTN) XP_024308865.1:p.Phe32547=
XM_024453098.1:c.97560C>T (TTN) XP_024308866.1:p.Phe32520=
XM_024453099.1:c.79323C>T (TTN) XP_024308867.1:p.Phe26441=
XM_024453100.1:c.69177C>T (TTN) XP_024308868.1:p.Phe23059=