Canonical Allele Identifier: CA430241483

Linked Data

MyVariant Identifiers: chr2:g.179408082A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543355A>T , CM000664.2:g.178543355A>T GRCh38
NC_000002.11:g.179408082A>T , CM000664.1:g.179408082A>T GRCh37
NC_000002.10:g.179116328A>T NCBI36
NG_011618.3:g.292448T>A , LRG_391:g.292448T>A
NG_051363.1:g.25529A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88914T>A (TTN) ENSP00000343764.6:p.Pro29638=
ENST00000342175.11:c.69999T>A (TTN) ENSP00000340554.6:p.Pro23333=
ENST00000359218.10:c.69798T>A (TTN) ENSP00000352154.5:p.Pro23266=
ENST00000342175.10:c.69999T>A (TTN) ENSP00000340554.6:p.Pro23333=
ENST00000342992.10:c.88914T>A (TTN) ENSP00000343764.6:p.Pro29638=
ENST00000359218.9:c.69798T>A (TTN) ENSP00000352154.5:p.Pro23266=
ENST00000460472.6:c.69423T>A (TTN) ENSP00000434586.1:p.Pro23141=
ENST00000589042.5:c.96618T>A (TTN) MANE Select ENSP00000467141.1:p.Pro32206=
ENST00000591111.5:c.91695T>A (TTN) ENSP00000465570.1:p.Pro30565=
ENST00000615779.4:c.91695T>A (TTN) ENSP00000483597.1:p.Pro30565=
NM_001256850.1:c.91695T>A (TTN) NP_001243779.1:p.Pro30565=
NM_001267550.2:c.96618T>A (TTN) MANE Select NP_001254479.2:p.Pro32206=
NM_003319.4:c.69423T>A (TTN) NP_003310.4:p.Pro23141=
NM_133378.4:c.88914T>A (TTN) NP_596869.4:p.Pro29638=
NM_133432.3:c.69798T>A (TTN) NP_597676.3:p.Pro23266=
NM_133437.4:c.69999T>A (TTN) NP_597681.4:p.Pro23333=
NR_038271.1:n.446+19719A>T (TTN-AS1)
NR_038272.1:n.2043+994A>T (TTN-AS1)
XM_011511729.1:c.95715T>A (TTN) XP_011510031.1:p.Pro31905=
XM_011511730.1:c.69609T>A (TTN) XP_011510032.1:p.Pro23203=
XM_011511731.1:c.69468T>A (TTN) XP_011510033.1:p.Pro23156=
XM_017004819.1:c.95511T>A (TTN) XP_016860308.1:p.Pro31837=
XM_017004820.1:c.90909T>A (TTN) XP_016860309.1:p.Pro30303=
XM_017004821.1:c.90906T>A (TTN) XP_016860310.1:p.Pro30302=
XM_017004822.1:c.87948T>A (TTN) XP_016860311.1:p.Pro29316=
XM_017004823.1:c.69564T>A (TTN) XP_016860312.1:p.Pro23188=
XM_024453094.1:c.91059T>A (TTN) XP_024308862.1:p.Pro30353=
XM_024453095.1:c.91056T>A (TTN) XP_024308863.1:p.Pro30352=
XM_024453096.1:c.90489T>A (TTN) XP_024308864.1:p.Pro30163=
XM_024453097.1:c.87831T>A (TTN) XP_024308865.1:p.Pro29277=
XM_024453098.1:c.87750T>A (TTN) XP_024308866.1:p.Pro29250=
XM_024453099.1:c.69513T>A (TTN) XP_024308867.1:p.Pro23171=
XM_024453100.1:c.59367T>A (TTN) XP_024308868.1:p.Pro19789=