Canonical Allele Identifier: CA430235167

Linked Data

MyVariant Identifiers: chr2:g.179395064C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530337C>T , CM000664.2:g.178530337C>T GRCh38
NC_000002.11:g.179395064C>T , CM000664.1:g.179395064C>T GRCh37
NC_000002.10:g.179103310C>T NCBI36
NG_011618.3:g.305466G>A , LRG_391:g.305466G>A
NG_051363.1:g.12511C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98574G>A (TTN) ENSP00000343764.6:p.Leu32858=
ENST00000342175.11:c.79659G>A (TTN) ENSP00000340554.6:p.Leu26553=
ENST00000359218.10:c.79458G>A (TTN) ENSP00000352154.5:p.Leu26486=
ENST00000342175.10:c.79659G>A (TTN) ENSP00000340554.6:p.Leu26553=
ENST00000342992.10:c.98574G>A (TTN) ENSP00000343764.6:p.Leu32858=
ENST00000359218.9:c.79458G>A (TTN) ENSP00000352154.5:p.Leu26486=
ENST00000460472.6:c.79083G>A (TTN) ENSP00000434586.1:p.Leu26361=
ENST00000589042.5:c.106278G>A (TTN) MANE Select ENSP00000467141.1:p.Leu35426=
ENST00000591111.5:c.101355G>A (TTN) ENSP00000465570.1:p.Leu33785=
ENST00000615779.4:c.101355G>A (TTN) ENSP00000483597.1:p.Leu33785=
NM_001256850.1:c.101355G>A (TTN) NP_001243779.1:p.Leu33785=
NM_001267550.2:c.106278G>A (TTN) MANE Select NP_001254479.2:p.Leu35426=
NM_003319.4:c.79083G>A (TTN) NP_003310.4:p.Leu26361=
NM_133378.4:c.98574G>A (TTN) NP_596869.4:p.Leu32858=
NM_133432.3:c.79458G>A (TTN) NP_597676.3:p.Leu26486=
NM_133437.4:c.79659G>A (TTN) NP_597681.4:p.Leu26553=
NR_038271.1:n.446+6701C>T (TTN-AS1)
NR_038272.1:n.220-5395C>T (TTN-AS1)
XM_011511729.1:c.105375G>A (TTN) XP_011510031.1:p.Leu35125=
XM_011511730.1:c.79269G>A (TTN) XP_011510032.1:p.Leu26423=
XM_011511731.1:c.79128G>A (TTN) XP_011510033.1:p.Leu26376=
XM_017004819.1:c.105171G>A (TTN) XP_016860308.1:p.Leu35057=
XM_017004820.1:c.100569G>A (TTN) XP_016860309.1:p.Leu33523=
XM_017004821.1:c.100566G>A (TTN) XP_016860310.1:p.Leu33522=
XM_017004822.1:c.97608G>A (TTN) XP_016860311.1:p.Leu32536=
XM_017004823.1:c.79224G>A (TTN) XP_016860312.1:p.Leu26408=
XM_024453094.1:c.100719G>A (TTN) XP_024308862.1:p.Leu33573=
XM_024453095.1:c.100716G>A (TTN) XP_024308863.1:p.Leu33572=
XM_024453096.1:c.100149G>A (TTN) XP_024308864.1:p.Leu33383=
XM_024453097.1:c.97491G>A (TTN) XP_024308865.1:p.Leu32497=
XM_024453098.1:c.97410G>A (TTN) XP_024308866.1:p.Leu32470=
XM_024453099.1:c.79173G>A (TTN) XP_024308867.1:p.Leu26391=
XM_024453100.1:c.69027G>A (TTN) XP_024308868.1:p.Leu23009=