Canonical Allele Identifier: CA430241296

Linked Data

MyVariant Identifiers: chr2:g.179408003G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543276G>T , CM000664.2:g.178543276G>T GRCh38
NC_000002.11:g.179408003G>T , CM000664.1:g.179408003G>T GRCh37
NC_000002.10:g.179116249G>T NCBI36
NG_011618.3:g.292527C>A , LRG_391:g.292527C>A
NG_051363.1:g.25450G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88993C>A (TTN) ENSP00000343764.6:p.Arg29665=
ENST00000342175.11:c.70078C>A (TTN) ENSP00000340554.6:p.Arg23360=
ENST00000359218.10:c.69877C>A (TTN) ENSP00000352154.5:p.Arg23293=
ENST00000342175.10:c.70078C>A (TTN) ENSP00000340554.6:p.Arg23360=
ENST00000342992.10:c.88993C>A (TTN) ENSP00000343764.6:p.Arg29665=
ENST00000359218.9:c.69877C>A (TTN) ENSP00000352154.5:p.Arg23293=
ENST00000460472.6:c.69502C>A (TTN) ENSP00000434586.1:p.Arg23168=
ENST00000589042.5:c.96697C>A (TTN) MANE Select ENSP00000467141.1:p.Arg32233=
ENST00000591111.5:c.91774C>A (TTN) ENSP00000465570.1:p.Arg30592=
ENST00000615779.4:c.91774C>A (TTN) ENSP00000483597.1:p.Arg30592=
NM_001256850.1:c.91774C>A (TTN) NP_001243779.1:p.Arg30592=
NM_001267550.2:c.96697C>A (TTN) MANE Select NP_001254479.2:p.Arg32233=
NM_003319.4:c.69502C>A (TTN) NP_003310.4:p.Arg23168=
NM_133378.4:c.88993C>A (TTN) NP_596869.4:p.Arg29665=
NM_133432.3:c.69877C>A (TTN) NP_597676.3:p.Arg23293=
NM_133437.4:c.70078C>A (TTN) NP_597681.4:p.Arg23360=
NR_038271.1:n.446+19640G>T (TTN-AS1)
NR_038272.1:n.2043+915G>T (TTN-AS1)
XM_011511729.1:c.95794C>A (TTN) XP_011510031.1:p.Arg31932=
XM_011511730.1:c.69688C>A (TTN) XP_011510032.1:p.Arg23230=
XM_011511731.1:c.69547C>A (TTN) XP_011510033.1:p.Arg23183=
XM_017004819.1:c.95590C>A (TTN) XP_016860308.1:p.Arg31864=
XM_017004820.1:c.90988C>A (TTN) XP_016860309.1:p.Arg30330=
XM_017004821.1:c.90985C>A (TTN) XP_016860310.1:p.Arg30329=
XM_017004822.1:c.88027C>A (TTN) XP_016860311.1:p.Arg29343=
XM_017004823.1:c.69643C>A (TTN) XP_016860312.1:p.Arg23215=
XM_024453094.1:c.91138C>A (TTN) XP_024308862.1:p.Arg30380=
XM_024453095.1:c.91135C>A (TTN) XP_024308863.1:p.Arg30379=
XM_024453096.1:c.90568C>A (TTN) XP_024308864.1:p.Arg30190=
XM_024453097.1:c.87910C>A (TTN) XP_024308865.1:p.Arg29304=
XM_024453098.1:c.87829C>A (TTN) XP_024308866.1:p.Arg29277=
XM_024453099.1:c.69592C>A (TTN) XP_024308867.1:p.Arg23198=
XM_024453100.1:c.59446C>A (TTN) XP_024308868.1:p.Arg19816=