Canonical Allele Identifier: CA430266483

Linked Data

MyVariant Identifiers: chr2:g.179455834A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178591107A>G , CM000664.2:g.178591107A>G GRCh38
NC_000002.11:g.179455834A>G , CM000664.1:g.179455834A>G GRCh37
NC_000002.10:g.179164080A>G NCBI36
NG_011618.3:g.244696T>C , LRG_391:g.244696T>C
NG_051363.1:g.73281A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.52914T>C (TTN) ENSP00000343764.6:p.Asn17638=
ENST00000342175.11:c.33999T>C (TTN) ENSP00000340554.6:p.Asn11333=
ENST00000359218.10:c.33798T>C (TTN) ENSP00000352154.5:p.Asn11266=
ENST00000342175.10:c.33999T>C (TTN) ENSP00000340554.6:p.Asn11333=
ENST00000342992.10:c.52914T>C (TTN) ENSP00000343764.6:p.Asn17638=
ENST00000359218.9:c.33798T>C (TTN) ENSP00000352154.5:p.Asn11266=
ENST00000460472.6:c.33423T>C (TTN) ENSP00000434586.1:p.Asn11141=
ENST00000589042.5:c.60618T>C (TTN) MANE Select ENSP00000467141.1:p.Asn20206=
ENST00000591111.5:c.55695T>C (TTN) ENSP00000465570.1:p.Asn18565=
ENST00000615779.4:c.55695T>C (TTN) ENSP00000483597.1:p.Asn18565=
NM_001256850.1:c.55695T>C (TTN) NP_001243779.1:p.Asn18565=
NM_001267550.2:c.60618T>C (TTN) MANE Select NP_001254479.2:p.Asn20206=
NM_003319.4:c.33423T>C (TTN) NP_003310.4:p.Asn11141=
NM_133378.4:c.52914T>C (TTN) NP_596869.4:p.Asn17638=
NM_133432.3:c.33798T>C (TTN) NP_597676.3:p.Asn11266=
NM_133437.4:c.33999T>C (TTN) NP_597681.4:p.Asn11333=
NR_038271.1:n.597-6489A>G (TTN-AS1)
NR_038272.1:n.3189-32A>G (TTN-AS1)
XM_011511729.1:c.59715T>C (TTN) XP_011510031.1:p.Asn19905=
XM_011511730.1:c.33609T>C (TTN) XP_011510032.1:p.Asn11203=
XM_011511731.1:c.33468T>C (TTN) XP_011510033.1:p.Asn11156=
XM_017004819.1:c.59511T>C (TTN) XP_016860308.1:p.Asn19837=
XM_017004820.1:c.54909T>C (TTN) XP_016860309.1:p.Asn18303=
XM_017004821.1:c.54906T>C (TTN) XP_016860310.1:p.Asn18302=
XM_017004822.1:c.51948T>C (TTN) XP_016860311.1:p.Asn17316=
XM_017004823.1:c.33564T>C (TTN) XP_016860312.1:p.Asn11188=
XM_024453094.1:c.55059T>C (TTN) XP_024308862.1:p.Asn18353=
XM_024453095.1:c.55056T>C (TTN) XP_024308863.1:p.Asn18352=
XM_024453096.1:c.54489T>C (TTN) XP_024308864.1:p.Asn18163=
XM_024453097.1:c.51831T>C (TTN) XP_024308865.1:p.Asn17277=
XM_024453098.1:c.51750T>C (TTN) XP_024308866.1:p.Asn17250=
XM_024453099.1:c.33513T>C (TTN) XP_024308867.1:p.Asn11171=
XM_024453100.1:c.23367T>C (TTN) XP_024308868.1:p.Asn7789=