Canonical Allele Identifier: CA430269340

Linked Data

MyVariant Identifiers: chr2:g.179467064A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178602337A>C , CM000664.2:g.178602337A>C GRCh38
NC_000002.11:g.179467064A>C , CM000664.1:g.179467064A>C GRCh37
NC_000002.10:g.179175309A>C NCBI36
NG_011618.3:g.233466T>G , LRG_391:g.233466T>G
NG_051363.1:g.84511A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.47361T>G (TTN) ENSP00000343764.6:p.Ala15787=
ENST00000342175.11:c.28446T>G (TTN) ENSP00000340554.6:p.Ala9482=
ENST00000359218.10:c.28245T>G (TTN) ENSP00000352154.5:p.Ala9415=
ENST00000342175.10:c.28446T>G (TTN) ENSP00000340554.6:p.Ala9482=
ENST00000342992.10:c.47361T>G (TTN) ENSP00000343764.6:p.Ala15787=
ENST00000359218.9:c.28245T>G (TTN) ENSP00000352154.5:p.Ala9415=
ENST00000460472.6:c.27870T>G (TTN) ENSP00000434586.1:p.Ala9290=
ENST00000589042.5:c.55065T>G (TTN) MANE Select ENSP00000467141.1:p.Ala18355=
ENST00000591111.5:c.50142T>G (TTN) ENSP00000465570.1:p.Ala16714=
ENST00000615779.4:c.50142T>G (TTN) ENSP00000483597.1:p.Ala16714=
NM_001256850.1:c.50142T>G (TTN) NP_001243779.1:p.Ala16714=
NM_001267550.2:c.55065T>G (TTN) MANE Select NP_001254479.2:p.Ala18355=
NM_003319.4:c.27870T>G (TTN) NP_003310.4:p.Ala9290=
NM_133378.4:c.47361T>G (TTN) NP_596869.4:p.Ala15787=
NM_133432.3:c.28245T>G (TTN) NP_597676.3:p.Ala9415=
NM_133437.4:c.28446T>G (TTN) NP_597681.4:p.Ala9482=
NR_038271.1:n.682+4656A>C (TTN-AS1)
NR_038272.1:n.3917+1670A>C (TTN-AS1)
XM_011511729.1:c.54162T>G (TTN) XP_011510031.1:p.Ala18054=
XM_011511730.1:c.28056T>G (TTN) XP_011510032.1:p.Ala9352=
XM_011511731.1:c.27915T>G (TTN) XP_011510033.1:p.Ala9305=
XM_017004819.1:c.53958T>G (TTN) XP_016860308.1:p.Ala17986=
XM_017004820.1:c.49356T>G (TTN) XP_016860309.1:p.Ala16452=
XM_017004821.1:c.49353T>G (TTN) XP_016860310.1:p.Ala16451=
XM_017004822.1:c.46395T>G (TTN) XP_016860311.1:p.Ala15465=
XM_017004823.1:c.28011T>G (TTN) XP_016860312.1:p.Ala9337=
XM_024453094.1:c.49506T>G (TTN) XP_024308862.1:p.Ala16502=
XM_024453095.1:c.49503T>G (TTN) XP_024308863.1:p.Ala16501=
XM_024453096.1:c.48936T>G (TTN) XP_024308864.1:p.Ala16312=
XM_024453097.1:c.46278T>G (TTN) XP_024308865.1:p.Ala15426=
XM_024453098.1:c.46197T>G (TTN) XP_024308866.1:p.Ala15399=
XM_024453099.1:c.27960T>G (TTN) XP_024308867.1:p.Ala9320=
XM_024453100.1:c.17814T>G (TTN) XP_024308868.1:p.Ala5938=