Canonical Allele Identifier: CA430249359

Linked Data

dbSNP Id: rs1703888598
MyVariant Identifiers: chr2:g.179426811A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178562084A>C , CM000664.2:g.178562084A>C GRCh38
NC_000002.11:g.179426811A>C , CM000664.1:g.179426811A>C GRCh37
NC_000002.10:g.179135057A>C NCBI36
NG_011618.3:g.273719T>G , LRG_391:g.273719T>G
NG_051363.1:g.44258A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.76344T>G (TTN) ENSP00000343764.6:p.Thr25448=
ENST00000342175.11:c.57429T>G (TTN) ENSP00000340554.6:p.Thr19143=
ENST00000359218.10:c.57228T>G (TTN) ENSP00000352154.5:p.Thr19076=
ENST00000342175.10:c.57429T>G (TTN) ENSP00000340554.6:p.Thr19143=
ENST00000342992.10:c.76344T>G (TTN) ENSP00000343764.6:p.Thr25448=
ENST00000359218.9:c.57228T>G (TTN) ENSP00000352154.5:p.Thr19076=
ENST00000460472.6:c.56853T>G (TTN) ENSP00000434586.1:p.Thr18951=
ENST00000589042.5:c.84048T>G (TTN) MANE Select ENSP00000467141.1:p.Thr28016=
ENST00000591111.5:c.79125T>G (TTN) ENSP00000465570.1:p.Thr26375=
ENST00000615779.4:c.79125T>G (TTN) ENSP00000483597.1:p.Thr26375=
NM_001256850.1:c.79125T>G (TTN) NP_001243779.1:p.Thr26375=
NM_001267550.2:c.84048T>G (TTN) MANE Select NP_001254479.2:p.Thr28016=
NM_003319.4:c.56853T>G (TTN) NP_003310.4:p.Thr18951=
NM_133378.4:c.76344T>G (TTN) NP_596869.4:p.Thr25448=
NM_133432.3:c.57228T>G (TTN) NP_597676.3:p.Thr19076=
NM_133437.4:c.57429T>G (TTN) NP_597681.4:p.Thr19143=
NR_038271.1:n.447-9216A>C (TTN-AS1)
NR_038272.1:n.2043+19723A>C (TTN-AS1)
XM_011511729.1:c.83145T>G (TTN) XP_011510031.1:p.Thr27715=
XM_011511730.1:c.57039T>G (TTN) XP_011510032.1:p.Thr19013=
XM_011511731.1:c.56898T>G (TTN) XP_011510033.1:p.Thr18966=
XM_017004819.1:c.82941T>G (TTN) XP_016860308.1:p.Thr27647=
XM_017004820.1:c.78339T>G (TTN) XP_016860309.1:p.Thr26113=
XM_017004821.1:c.78336T>G (TTN) XP_016860310.1:p.Thr26112=
XM_017004822.1:c.75378T>G (TTN) XP_016860311.1:p.Thr25126=
XM_017004823.1:c.56994T>G (TTN) XP_016860312.1:p.Thr18998=
XM_024453094.1:c.78489T>G (TTN) XP_024308862.1:p.Thr26163=
XM_024453095.1:c.78486T>G (TTN) XP_024308863.1:p.Thr26162=
XM_024453096.1:c.77919T>G (TTN) XP_024308864.1:p.Thr25973=
XM_024453097.1:c.75261T>G (TTN) XP_024308865.1:p.Thr25087=
XM_024453098.1:c.75180T>G (TTN) XP_024308866.1:p.Thr25060=
XM_024453099.1:c.56943T>G (TTN) XP_024308867.1:p.Thr18981=
XM_024453100.1:c.46797T>G (TTN) XP_024308868.1:p.Thr15599=