Canonical Allele Identifier: CA430235559

Linked Data

MyVariant Identifiers: chr2:g.179395346G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530619G>A , CM000664.2:g.178530619G>A GRCh38
NC_000002.11:g.179395346G>A , CM000664.1:g.179395346G>A GRCh37
NC_000002.10:g.179103592G>A NCBI36
NG_011618.3:g.305184C>T , LRG_391:g.305184C>T
NG_051363.1:g.12793G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98292C>T (TTN) ENSP00000343764.6:p.Phe32764=
ENST00000342175.11:c.79377C>T (TTN) ENSP00000340554.6:p.Phe26459=
ENST00000359218.10:c.79176C>T (TTN) ENSP00000352154.5:p.Phe26392=
ENST00000342175.10:c.79377C>T (TTN) ENSP00000340554.6:p.Phe26459=
ENST00000342992.10:c.98292C>T (TTN) ENSP00000343764.6:p.Phe32764=
ENST00000359218.9:c.79176C>T (TTN) ENSP00000352154.5:p.Phe26392=
ENST00000460472.6:c.78801C>T (TTN) ENSP00000434586.1:p.Phe26267=
ENST00000589042.5:c.105996C>T (TTN) MANE Select ENSP00000467141.1:p.Phe35332=
ENST00000591111.5:c.101073C>T (TTN) ENSP00000465570.1:p.Phe33691=
ENST00000615779.4:c.101073C>T (TTN) ENSP00000483597.1:p.Phe33691=
NM_001256850.1:c.101073C>T (TTN) NP_001243779.1:p.Phe33691=
NM_001267550.2:c.105996C>T (TTN) MANE Select NP_001254479.2:p.Phe35332=
NM_003319.4:c.78801C>T (TTN) NP_003310.4:p.Phe26267=
NM_133378.4:c.98292C>T (TTN) NP_596869.4:p.Phe32764=
NM_133432.3:c.79176C>T (TTN) NP_597676.3:p.Phe26392=
NM_133437.4:c.79377C>T (TTN) NP_597681.4:p.Phe26459=
NR_038271.1:n.446+6983G>A (TTN-AS1)
NR_038272.1:n.220-5113G>A (TTN-AS1)
XM_011511729.1:c.105093C>T (TTN) XP_011510031.1:p.Phe35031=
XM_011511730.1:c.78987C>T (TTN) XP_011510032.1:p.Phe26329=
XM_011511731.1:c.78846C>T (TTN) XP_011510033.1:p.Phe26282=
XM_017004819.1:c.104889C>T (TTN) XP_016860308.1:p.Phe34963=
XM_017004820.1:c.100287C>T (TTN) XP_016860309.1:p.Phe33429=
XM_017004821.1:c.100284C>T (TTN) XP_016860310.1:p.Phe33428=
XM_017004822.1:c.97326C>T (TTN) XP_016860311.1:p.Phe32442=
XM_017004823.1:c.78942C>T (TTN) XP_016860312.1:p.Phe26314=
XM_024453094.1:c.100437C>T (TTN) XP_024308862.1:p.Phe33479=
XM_024453095.1:c.100434C>T (TTN) XP_024308863.1:p.Phe33478=
XM_024453096.1:c.99867C>T (TTN) XP_024308864.1:p.Phe33289=
XM_024453097.1:c.97209C>T (TTN) XP_024308865.1:p.Phe32403=
XM_024453098.1:c.97128C>T (TTN) XP_024308866.1:p.Phe32376=
XM_024453099.1:c.78891C>T (TTN) XP_024308867.1:p.Phe26297=
XM_024453100.1:c.68745C>T (TTN) XP_024308868.1:p.Phe22915=