Canonical Allele Identifier: CA430235259

Linked Data

MyVariant Identifiers: chr2:g.179395112T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530385T>A , CM000664.2:g.178530385T>A GRCh38
NC_000002.11:g.179395112T>A , CM000664.1:g.179395112T>A GRCh37
NC_000002.10:g.179103358T>A NCBI36
NG_011618.3:g.305418A>T , LRG_391:g.305418A>T
NG_051363.1:g.12559T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98526A>T (TTN) ENSP00000343764.6:p.Pro32842=
ENST00000342175.11:c.79611A>T (TTN) ENSP00000340554.6:p.Pro26537=
ENST00000359218.10:c.79410A>T (TTN) ENSP00000352154.5:p.Pro26470=
ENST00000342175.10:c.79611A>T (TTN) ENSP00000340554.6:p.Pro26537=
ENST00000342992.10:c.98526A>T (TTN) ENSP00000343764.6:p.Pro32842=
ENST00000359218.9:c.79410A>T (TTN) ENSP00000352154.5:p.Pro26470=
ENST00000460472.6:c.79035A>T (TTN) ENSP00000434586.1:p.Pro26345=
ENST00000589042.5:c.106230A>T (TTN) MANE Select ENSP00000467141.1:p.Pro35410=
ENST00000591111.5:c.101307A>T (TTN) ENSP00000465570.1:p.Pro33769=
ENST00000615779.4:c.101307A>T (TTN) ENSP00000483597.1:p.Pro33769=
NM_001256850.1:c.101307A>T (TTN) NP_001243779.1:p.Pro33769=
NM_001267550.2:c.106230A>T (TTN) MANE Select NP_001254479.2:p.Pro35410=
NM_003319.4:c.79035A>T (TTN) NP_003310.4:p.Pro26345=
NM_133378.4:c.98526A>T (TTN) NP_596869.4:p.Pro32842=
NM_133432.3:c.79410A>T (TTN) NP_597676.3:p.Pro26470=
NM_133437.4:c.79611A>T (TTN) NP_597681.4:p.Pro26537=
NR_038271.1:n.446+6749T>A (TTN-AS1)
NR_038272.1:n.220-5347T>A (TTN-AS1)
XM_011511729.1:c.105327A>T (TTN) XP_011510031.1:p.Pro35109=
XM_011511730.1:c.79221A>T (TTN) XP_011510032.1:p.Pro26407=
XM_011511731.1:c.79080A>T (TTN) XP_011510033.1:p.Pro26360=
XM_017004819.1:c.105123A>T (TTN) XP_016860308.1:p.Pro35041=
XM_017004820.1:c.100521A>T (TTN) XP_016860309.1:p.Pro33507=
XM_017004821.1:c.100518A>T (TTN) XP_016860310.1:p.Pro33506=
XM_017004822.1:c.97560A>T (TTN) XP_016860311.1:p.Pro32520=
XM_017004823.1:c.79176A>T (TTN) XP_016860312.1:p.Pro26392=
XM_024453094.1:c.100671A>T (TTN) XP_024308862.1:p.Pro33557=
XM_024453095.1:c.100668A>T (TTN) XP_024308863.1:p.Pro33556=
XM_024453096.1:c.100101A>T (TTN) XP_024308864.1:p.Pro33367=
XM_024453097.1:c.97443A>T (TTN) XP_024308865.1:p.Pro32481=
XM_024453098.1:c.97362A>T (TTN) XP_024308866.1:p.Pro32454=
XM_024453099.1:c.79125A>T (TTN) XP_024308867.1:p.Pro26375=
XM_024453100.1:c.68979A>T (TTN) XP_024308868.1:p.Pro22993=