Canonical Allele Identifier: CA430242441

Linked Data

MyVariant Identifiers: chr2:g.179411463T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546736T>C , CM000664.2:g.178546736T>C GRCh38
NC_000002.11:g.179411463T>C , CM000664.1:g.179411463T>C GRCh37
NC_000002.10:g.179119709T>C NCBI36
NG_011618.3:g.289067A>G , LRG_391:g.289067A>G
NG_051363.1:g.28910T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.86988A>G (TTN) ENSP00000343764.6:p.Val28996=
ENST00000342175.11:c.68073A>G (TTN) ENSP00000340554.6:p.Val22691=
ENST00000359218.10:c.67872A>G (TTN) ENSP00000352154.5:p.Val22624=
ENST00000342175.10:c.68073A>G (TTN) ENSP00000340554.6:p.Val22691=
ENST00000342992.10:c.86988A>G (TTN) ENSP00000343764.6:p.Val28996=
ENST00000359218.9:c.67872A>G (TTN) ENSP00000352154.5:p.Val22624=
ENST00000460472.6:c.67497A>G (TTN) ENSP00000434586.1:p.Val22499=
ENST00000589042.5:c.94692A>G (TTN) MANE Select ENSP00000467141.1:p.Val31564=
ENST00000591111.5:c.89769A>G (TTN) ENSP00000465570.1:p.Val29923=
ENST00000615779.4:c.89769A>G (TTN) ENSP00000483597.1:p.Val29923=
NM_001256850.1:c.89769A>G (TTN) NP_001243779.1:p.Val29923=
NM_001267550.2:c.94692A>G (TTN) MANE Select NP_001254479.2:p.Val31564=
NM_003319.4:c.67497A>G (TTN) NP_003310.4:p.Val22499=
NM_133378.4:c.86988A>G (TTN) NP_596869.4:p.Val28996=
NM_133432.3:c.67872A>G (TTN) NP_597676.3:p.Val22624=
NM_133437.4:c.68073A>G (TTN) NP_597681.4:p.Val22691=
NR_038271.1:n.446+23100T>C (TTN-AS1)
NR_038272.1:n.2043+4375T>C (TTN-AS1)
XM_011511729.1:c.93789A>G (TTN) XP_011510031.1:p.Val31263=
XM_011511730.1:c.67683A>G (TTN) XP_011510032.1:p.Val22561=
XM_011511731.1:c.67542A>G (TTN) XP_011510033.1:p.Val22514=
XM_017004819.1:c.93585A>G (TTN) XP_016860308.1:p.Val31195=
XM_017004820.1:c.88983A>G (TTN) XP_016860309.1:p.Val29661=
XM_017004821.1:c.88980A>G (TTN) XP_016860310.1:p.Val29660=
XM_017004822.1:c.86022A>G (TTN) XP_016860311.1:p.Val28674=
XM_017004823.1:c.67638A>G (TTN) XP_016860312.1:p.Val22546=
XM_024453094.1:c.89133A>G (TTN) XP_024308862.1:p.Val29711=
XM_024453095.1:c.89130A>G (TTN) XP_024308863.1:p.Val29710=
XM_024453096.1:c.88563A>G (TTN) XP_024308864.1:p.Val29521=
XM_024453097.1:c.85905A>G (TTN) XP_024308865.1:p.Val28635=
XM_024453098.1:c.85824A>G (TTN) XP_024308866.1:p.Val28608=
XM_024453099.1:c.67587A>G (TTN) XP_024308867.1:p.Val22529=
XM_024453100.1:c.57441A>G (TTN) XP_024308868.1:p.Val19147=