Canonical Allele Identifier: CA430239404

Linked Data

MyVariant Identifiers: chr2:g.179402310T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178537583T>A , CM000664.2:g.178537583T>A GRCh38
NC_000002.11:g.179402310T>A , CM000664.1:g.179402310T>A GRCh37
NC_000002.10:g.179110556T>A NCBI36
NG_011618.3:g.298220A>T , LRG_391:g.298220A>T
NG_051363.1:g.19757T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.91920A>T (TTN) ENSP00000343764.6:p.Gly30640=
ENST00000342175.11:c.73005A>T (TTN) ENSP00000340554.6:p.Gly24335=
ENST00000359218.10:c.72804A>T (TTN) ENSP00000352154.5:p.Gly24268=
ENST00000342175.10:c.73005A>T (TTN) ENSP00000340554.6:p.Gly24335=
ENST00000342992.10:c.91920A>T (TTN) ENSP00000343764.6:p.Gly30640=
ENST00000359218.9:c.72804A>T (TTN) ENSP00000352154.5:p.Gly24268=
ENST00000460472.6:c.72429A>T (TTN) ENSP00000434586.1:p.Gly24143=
ENST00000589042.5:c.99624A>T (TTN) MANE Select ENSP00000467141.1:p.Gly33208=
ENST00000591111.5:c.94701A>T (TTN) ENSP00000465570.1:p.Gly31567=
ENST00000615779.4:c.94701A>T (TTN) ENSP00000483597.1:p.Gly31567=
NM_001256850.1:c.94701A>T (TTN) NP_001243779.1:p.Gly31567=
NM_001267550.2:c.99624A>T (TTN) MANE Select NP_001254479.2:p.Gly33208=
NM_003319.4:c.72429A>T (TTN) NP_003310.4:p.Gly24143=
NM_133378.4:c.91920A>T (TTN) NP_596869.4:p.Gly30640=
NM_133432.3:c.72804A>T (TTN) NP_597676.3:p.Gly24268=
NM_133437.4:c.73005A>T (TTN) NP_597681.4:p.Gly24335=
NR_038271.1:n.446+13947T>A (TTN-AS1)
NR_038272.1:n.539T>A (TTN-AS1)
XM_011511729.1:c.98721A>T (TTN) XP_011510031.1:p.Gly32907=
XM_011511730.1:c.72615A>T (TTN) XP_011510032.1:p.Gly24205=
XM_011511731.1:c.72474A>T (TTN) XP_011510033.1:p.Gly24158=
XM_017004819.1:c.98517A>T (TTN) XP_016860308.1:p.Gly32839=
XM_017004820.1:c.93915A>T (TTN) XP_016860309.1:p.Gly31305=
XM_017004821.1:c.93912A>T (TTN) XP_016860310.1:p.Gly31304=
XM_017004822.1:c.90954A>T (TTN) XP_016860311.1:p.Gly30318=
XM_017004823.1:c.72570A>T (TTN) XP_016860312.1:p.Gly24190=
XM_024453094.1:c.94065A>T (TTN) XP_024308862.1:p.Gly31355=
XM_024453095.1:c.94062A>T (TTN) XP_024308863.1:p.Gly31354=
XM_024453096.1:c.93495A>T (TTN) XP_024308864.1:p.Gly31165=
XM_024453097.1:c.90837A>T (TTN) XP_024308865.1:p.Gly30279=
XM_024453098.1:c.90756A>T (TTN) XP_024308866.1:p.Gly30252=
XM_024453099.1:c.72519A>T (TTN) XP_024308867.1:p.Gly24173=
XM_024453100.1:c.62373A>T (TTN) XP_024308868.1:p.Gly20791=