Canonical Allele Identifier: CA430267879

Linked Data

MyVariant Identifiers: chr2:g.179457809A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178593082A>C , CM000664.2:g.178593082A>C GRCh38
NC_000002.11:g.179457809A>C , CM000664.1:g.179457809A>C GRCh37
NC_000002.10:g.179166055A>C NCBI36
NG_011618.3:g.242721T>G , LRG_391:g.242721T>G
NG_051363.1:g.75256A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.51333T>G (TTN) ENSP00000343764.6:p.Ala17111=
ENST00000342175.11:c.32418T>G (TTN) ENSP00000340554.6:p.Ala10806=
ENST00000359218.10:c.32217T>G (TTN) ENSP00000352154.5:p.Ala10739=
ENST00000342175.10:c.32418T>G (TTN) ENSP00000340554.6:p.Ala10806=
ENST00000342992.10:c.51333T>G (TTN) ENSP00000343764.6:p.Ala17111=
ENST00000359218.9:c.32217T>G (TTN) ENSP00000352154.5:p.Ala10739=
ENST00000460472.6:c.31842T>G (TTN) ENSP00000434586.1:p.Ala10614=
ENST00000589042.5:c.59037T>G (TTN) MANE Select ENSP00000467141.1:p.Ala19679=
ENST00000591111.5:c.54114T>G (TTN) ENSP00000465570.1:p.Ala18038=
ENST00000615779.4:c.54114T>G (TTN) ENSP00000483597.1:p.Ala18038=
NM_001256850.1:c.54114T>G (TTN) NP_001243779.1:p.Ala18038=
NM_001267550.2:c.59037T>G (TTN) MANE Select NP_001254479.2:p.Ala19679=
NM_003319.4:c.31842T>G (TTN) NP_003310.4:p.Ala10614=
NM_133378.4:c.51333T>G (TTN) NP_596869.4:p.Ala17111=
NM_133432.3:c.32217T>G (TTN) NP_597676.3:p.Ala10739=
NM_133437.4:c.32418T>G (TTN) NP_597681.4:p.Ala10806=
NR_038271.1:n.597-4514A>C (TTN-AS1)
NR_038272.1:n.3364+1768A>C (TTN-AS1)
XM_011511729.1:c.58134T>G (TTN) XP_011510031.1:p.Ala19378=
XM_011511730.1:c.32028T>G (TTN) XP_011510032.1:p.Ala10676=
XM_011511731.1:c.31887T>G (TTN) XP_011510033.1:p.Ala10629=
XM_017004819.1:c.57930T>G (TTN) XP_016860308.1:p.Ala19310=
XM_017004820.1:c.53328T>G (TTN) XP_016860309.1:p.Ala17776=
XM_017004821.1:c.53325T>G (TTN) XP_016860310.1:p.Ala17775=
XM_017004822.1:c.50367T>G (TTN) XP_016860311.1:p.Ala16789=
XM_017004823.1:c.31983T>G (TTN) XP_016860312.1:p.Ala10661=
XM_024453094.1:c.53478T>G (TTN) XP_024308862.1:p.Ala17826=
XM_024453095.1:c.53475T>G (TTN) XP_024308863.1:p.Ala17825=
XM_024453096.1:c.52908T>G (TTN) XP_024308864.1:p.Ala17636=
XM_024453097.1:c.50250T>G (TTN) XP_024308865.1:p.Ala16750=
XM_024453098.1:c.50169T>G (TTN) XP_024308866.1:p.Ala16723=
XM_024453099.1:c.31932T>G (TTN) XP_024308867.1:p.Ala10644=
XM_024453100.1:c.21786T>G (TTN) XP_024308868.1:p.Ala7262=