Canonical Allele Identifier: CA430241397

Linked Data

MyVariant Identifiers: chr2:g.179408568T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543841T>C , CM000664.2:g.178543841T>C GRCh38
NC_000002.11:g.179408568T>C , CM000664.1:g.179408568T>C GRCh37
NC_000002.10:g.179116814T>C NCBI36
NG_011618.3:g.291962A>G , LRG_391:g.291962A>G
NG_051363.1:g.26015T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88599A>G (TTN) ENSP00000343764.6:p.Lys29533=
ENST00000342175.11:c.69684A>G (TTN) ENSP00000340554.6:p.Lys23228=
ENST00000359218.10:c.69483A>G (TTN) ENSP00000352154.5:p.Lys23161=
ENST00000342175.10:c.69684A>G (TTN) ENSP00000340554.6:p.Lys23228=
ENST00000342992.10:c.88599A>G (TTN) ENSP00000343764.6:p.Lys29533=
ENST00000359218.9:c.69483A>G (TTN) ENSP00000352154.5:p.Lys23161=
ENST00000460472.6:c.69108A>G (TTN) ENSP00000434586.1:p.Lys23036=
ENST00000589042.5:c.96303A>G (TTN) MANE Select ENSP00000467141.1:p.Lys32101=
ENST00000591111.5:c.91380A>G (TTN) ENSP00000465570.1:p.Lys30460=
ENST00000615779.4:c.91380A>G (TTN) ENSP00000483597.1:p.Lys30460=
NM_001256850.1:c.91380A>G (TTN) NP_001243779.1:p.Lys30460=
NM_001267550.2:c.96303A>G (TTN) MANE Select NP_001254479.2:p.Lys32101=
NM_003319.4:c.69108A>G (TTN) NP_003310.4:p.Lys23036=
NM_133378.4:c.88599A>G (TTN) NP_596869.4:p.Lys29533=
NM_133432.3:c.69483A>G (TTN) NP_597676.3:p.Lys23161=
NM_133437.4:c.69684A>G (TTN) NP_597681.4:p.Lys23228=
NR_038271.1:n.446+20205T>C (TTN-AS1)
NR_038272.1:n.2043+1480T>C (TTN-AS1)
XM_011511729.1:c.95400A>G (TTN) XP_011510031.1:p.Lys31800=
XM_011511730.1:c.69294A>G (TTN) XP_011510032.1:p.Lys23098=
XM_011511731.1:c.69153A>G (TTN) XP_011510033.1:p.Lys23051=
XM_017004819.1:c.95196A>G (TTN) XP_016860308.1:p.Lys31732=
XM_017004820.1:c.90594A>G (TTN) XP_016860309.1:p.Lys30198=
XM_017004821.1:c.90591A>G (TTN) XP_016860310.1:p.Lys30197=
XM_017004822.1:c.87633A>G (TTN) XP_016860311.1:p.Lys29211=
XM_017004823.1:c.69249A>G (TTN) XP_016860312.1:p.Lys23083=
XM_024453094.1:c.90744A>G (TTN) XP_024308862.1:p.Lys30248=
XM_024453095.1:c.90741A>G (TTN) XP_024308863.1:p.Lys30247=
XM_024453096.1:c.90174A>G (TTN) XP_024308864.1:p.Lys30058=
XM_024453097.1:c.87516A>G (TTN) XP_024308865.1:p.Lys29172=
XM_024453098.1:c.87435A>G (TTN) XP_024308866.1:p.Lys29145=
XM_024453099.1:c.69198A>G (TTN) XP_024308867.1:p.Lys23066=
XM_024453100.1:c.59052A>G (TTN) XP_024308868.1:p.Lys19684=