Canonical Allele Identifier: CA430242705

Linked Data

MyVariant Identifiers: chr2:g.179412360T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178547633T>C , CM000664.2:g.178547633T>C GRCh38
NC_000002.11:g.179412360T>C , CM000664.1:g.179412360T>C GRCh37
NC_000002.10:g.179120606T>C NCBI36
NG_011618.3:g.288170A>G , LRG_391:g.288170A>G
NG_051363.1:g.29807T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.86289A>G (TTN) ENSP00000343764.6:p.Gly28763=
ENST00000342175.11:c.67374A>G (TTN) ENSP00000340554.6:p.Gly22458=
ENST00000359218.10:c.67173A>G (TTN) ENSP00000352154.5:p.Gly22391=
ENST00000342175.10:c.67374A>G (TTN) ENSP00000340554.6:p.Gly22458=
ENST00000342992.10:c.86289A>G (TTN) ENSP00000343764.6:p.Gly28763=
ENST00000359218.9:c.67173A>G (TTN) ENSP00000352154.5:p.Gly22391=
ENST00000460472.6:c.66798A>G (TTN) ENSP00000434586.1:p.Gly22266=
ENST00000589042.5:c.93993A>G (TTN) MANE Select ENSP00000467141.1:p.Gly31331=
ENST00000591111.5:c.89070A>G (TTN) ENSP00000465570.1:p.Gly29690=
ENST00000615779.4:c.89070A>G (TTN) ENSP00000483597.1:p.Gly29690=
NM_001256850.1:c.89070A>G (TTN) NP_001243779.1:p.Gly29690=
NM_001267550.2:c.93993A>G (TTN) MANE Select NP_001254479.2:p.Gly31331=
NM_003319.4:c.66798A>G (TTN) NP_003310.4:p.Gly22266=
NM_133378.4:c.86289A>G (TTN) NP_596869.4:p.Gly28763=
NM_133432.3:c.67173A>G (TTN) NP_597676.3:p.Gly22391=
NM_133437.4:c.67374A>G (TTN) NP_597681.4:p.Gly22458=
NR_038271.1:n.447-23667T>C (TTN-AS1)
NR_038272.1:n.2043+5272T>C (TTN-AS1)
XM_011511729.1:c.93090A>G (TTN) XP_011510031.1:p.Gly31030=
XM_011511730.1:c.66984A>G (TTN) XP_011510032.1:p.Gly22328=
XM_011511731.1:c.66843A>G (TTN) XP_011510033.1:p.Gly22281=
XM_017004819.1:c.92886A>G (TTN) XP_016860308.1:p.Gly30962=
XM_017004820.1:c.88284A>G (TTN) XP_016860309.1:p.Gly29428=
XM_017004821.1:c.88281A>G (TTN) XP_016860310.1:p.Gly29427=
XM_017004822.1:c.85323A>G (TTN) XP_016860311.1:p.Gly28441=
XM_017004823.1:c.66939A>G (TTN) XP_016860312.1:p.Gly22313=
XM_024453094.1:c.88434A>G (TTN) XP_024308862.1:p.Gly29478=
XM_024453095.1:c.88431A>G (TTN) XP_024308863.1:p.Gly29477=
XM_024453096.1:c.87864A>G (TTN) XP_024308864.1:p.Gly29288=
XM_024453097.1:c.85206A>G (TTN) XP_024308865.1:p.Gly28402=
XM_024453098.1:c.85125A>G (TTN) XP_024308866.1:p.Gly28375=
XM_024453099.1:c.66888A>G (TTN) XP_024308867.1:p.Gly22296=
XM_024453100.1:c.56742A>G (TTN) XP_024308868.1:p.Gly18914=