Canonical Allele Identifier: CA430239246

Linked Data

MyVariant Identifiers: chr2:g.179402268A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178537541A>T , CM000664.2:g.178537541A>T GRCh38
NC_000002.11:g.179402268A>T , CM000664.1:g.179402268A>T GRCh37
NC_000002.10:g.179110514A>T NCBI36
NG_011618.3:g.298262T>A , LRG_391:g.298262T>A
NG_051363.1:g.19715A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.91962T>A (TTN) ENSP00000343764.6:p.Gly30654=
ENST00000342175.11:c.73047T>A (TTN) ENSP00000340554.6:p.Gly24349=
ENST00000359218.10:c.72846T>A (TTN) ENSP00000352154.5:p.Gly24282=
ENST00000342175.10:c.73047T>A (TTN) ENSP00000340554.6:p.Gly24349=
ENST00000342992.10:c.91962T>A (TTN) ENSP00000343764.6:p.Gly30654=
ENST00000359218.9:c.72846T>A (TTN) ENSP00000352154.5:p.Gly24282=
ENST00000460472.6:c.72471T>A (TTN) ENSP00000434586.1:p.Gly24157=
ENST00000589042.5:c.99666T>A (TTN) MANE Select ENSP00000467141.1:p.Gly33222=
ENST00000591111.5:c.94743T>A (TTN) ENSP00000465570.1:p.Gly31581=
ENST00000615779.4:c.94743T>A (TTN) ENSP00000483597.1:p.Gly31581=
NM_001256850.1:c.94743T>A (TTN) NP_001243779.1:p.Gly31581=
NM_001267550.2:c.99666T>A (TTN) MANE Select NP_001254479.2:p.Gly33222=
NM_003319.4:c.72471T>A (TTN) NP_003310.4:p.Gly24157=
NM_133378.4:c.91962T>A (TTN) NP_596869.4:p.Gly30654=
NM_133432.3:c.72846T>A (TTN) NP_597676.3:p.Gly24282=
NM_133437.4:c.73047T>A (TTN) NP_597681.4:p.Gly24349=
NR_038271.1:n.446+13905A>T (TTN-AS1)
NR_038272.1:n.497A>T (TTN-AS1)
XM_011511729.1:c.98763T>A (TTN) XP_011510031.1:p.Gly32921=
XM_011511730.1:c.72657T>A (TTN) XP_011510032.1:p.Gly24219=
XM_011511731.1:c.72516T>A (TTN) XP_011510033.1:p.Gly24172=
XM_017004819.1:c.98559T>A (TTN) XP_016860308.1:p.Gly32853=
XM_017004820.1:c.93957T>A (TTN) XP_016860309.1:p.Gly31319=
XM_017004821.1:c.93954T>A (TTN) XP_016860310.1:p.Gly31318=
XM_017004822.1:c.90996T>A (TTN) XP_016860311.1:p.Gly30332=
XM_017004823.1:c.72612T>A (TTN) XP_016860312.1:p.Gly24204=
XM_024453094.1:c.94107T>A (TTN) XP_024308862.1:p.Gly31369=
XM_024453095.1:c.94104T>A (TTN) XP_024308863.1:p.Gly31368=
XM_024453096.1:c.93537T>A (TTN) XP_024308864.1:p.Gly31179=
XM_024453097.1:c.90879T>A (TTN) XP_024308865.1:p.Gly30293=
XM_024453098.1:c.90798T>A (TTN) XP_024308866.1:p.Gly30266=
XM_024453099.1:c.72561T>A (TTN) XP_024308867.1:p.Gly24187=
XM_024453100.1:c.62415T>A (TTN) XP_024308868.1:p.Gly20805=