Canonical Allele Identifier: CA430237935

Linked Data

MyVariant Identifiers: chr2:g.179398787G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178534060G>T , CM000664.2:g.178534060G>T GRCh38
NC_000002.11:g.179398787G>T , CM000664.1:g.179398787G>T GRCh37
NC_000002.10:g.179107033G>T NCBI36
NG_011618.3:g.301743C>A , LRG_391:g.301743C>A
NG_051363.1:g.16234G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.94851C>A (TTN) ENSP00000343764.6:p.Ile31617=
ENST00000342175.11:c.75936C>A (TTN) ENSP00000340554.6:p.Ile25312=
ENST00000359218.10:c.75735C>A (TTN) ENSP00000352154.5:p.Ile25245=
ENST00000342175.10:c.75936C>A (TTN) ENSP00000340554.6:p.Ile25312=
ENST00000342992.10:c.94851C>A (TTN) ENSP00000343764.6:p.Ile31617=
ENST00000359218.9:c.75735C>A (TTN) ENSP00000352154.5:p.Ile25245=
ENST00000460472.6:c.75360C>A (TTN) ENSP00000434586.1:p.Ile25120=
ENST00000589042.5:c.102555C>A (TTN) MANE Select ENSP00000467141.1:p.Ile34185=
ENST00000591111.5:c.97632C>A (TTN) ENSP00000465570.1:p.Ile32544=
ENST00000615779.4:c.97632C>A (TTN) ENSP00000483597.1:p.Ile32544=
NM_001256850.1:c.97632C>A (TTN) NP_001243779.1:p.Ile32544=
NM_001267550.2:c.102555C>A (TTN) MANE Select NP_001254479.2:p.Ile34185=
NM_003319.4:c.75360C>A (TTN) NP_003310.4:p.Ile25120=
NM_133378.4:c.94851C>A (TTN) NP_596869.4:p.Ile31617=
NM_133432.3:c.75735C>A (TTN) NP_597676.3:p.Ile25245=
NM_133437.4:c.75936C>A (TTN) NP_597681.4:p.Ile25312=
NR_038271.1:n.446+10424G>T (TTN-AS1)
NR_038272.1:n.220-1672G>T (TTN-AS1)
XM_011511729.1:c.101652C>A (TTN) XP_011510031.1:p.Ile33884=
XM_011511730.1:c.75546C>A (TTN) XP_011510032.1:p.Ile25182=
XM_011511731.1:c.75405C>A (TTN) XP_011510033.1:p.Ile25135=
XM_017004819.1:c.101448C>A (TTN) XP_016860308.1:p.Ile33816=
XM_017004820.1:c.96846C>A (TTN) XP_016860309.1:p.Ile32282=
XM_017004821.1:c.96843C>A (TTN) XP_016860310.1:p.Ile32281=
XM_017004822.1:c.93885C>A (TTN) XP_016860311.1:p.Ile31295=
XM_017004823.1:c.75501C>A (TTN) XP_016860312.1:p.Ile25167=
XM_024453094.1:c.96996C>A (TTN) XP_024308862.1:p.Ile32332=
XM_024453095.1:c.96993C>A (TTN) XP_024308863.1:p.Ile32331=
XM_024453096.1:c.96426C>A (TTN) XP_024308864.1:p.Ile32142=
XM_024453097.1:c.93768C>A (TTN) XP_024308865.1:p.Ile31256=
XM_024453098.1:c.93687C>A (TTN) XP_024308866.1:p.Ile31229=
XM_024453099.1:c.75450C>A (TTN) XP_024308867.1:p.Ile25150=
XM_024453100.1:c.65304C>A (TTN) XP_024308868.1:p.Ile21768=