Canonical Allele Identifier: CA430241301

Linked Data

MyVariant Identifiers: chr2:g.179408007A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543280A>G , CM000664.2:g.178543280A>G GRCh38
NC_000002.11:g.179408007A>G , CM000664.1:g.179408007A>G GRCh37
NC_000002.10:g.179116253A>G NCBI36
NG_011618.3:g.292523T>C , LRG_391:g.292523T>C
NG_051363.1:g.25454A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88989T>C (TTN) ENSP00000343764.6:p.Gly29663=
ENST00000342175.11:c.70074T>C (TTN) ENSP00000340554.6:p.Gly23358=
ENST00000359218.10:c.69873T>C (TTN) ENSP00000352154.5:p.Gly23291=
ENST00000342175.10:c.70074T>C (TTN) ENSP00000340554.6:p.Gly23358=
ENST00000342992.10:c.88989T>C (TTN) ENSP00000343764.6:p.Gly29663=
ENST00000359218.9:c.69873T>C (TTN) ENSP00000352154.5:p.Gly23291=
ENST00000460472.6:c.69498T>C (TTN) ENSP00000434586.1:p.Gly23166=
ENST00000589042.5:c.96693T>C (TTN) MANE Select ENSP00000467141.1:p.Gly32231=
ENST00000591111.5:c.91770T>C (TTN) ENSP00000465570.1:p.Gly30590=
ENST00000615779.4:c.91770T>C (TTN) ENSP00000483597.1:p.Gly30590=
NM_001256850.1:c.91770T>C (TTN) NP_001243779.1:p.Gly30590=
NM_001267550.2:c.96693T>C (TTN) MANE Select NP_001254479.2:p.Gly32231=
NM_003319.4:c.69498T>C (TTN) NP_003310.4:p.Gly23166=
NM_133378.4:c.88989T>C (TTN) NP_596869.4:p.Gly29663=
NM_133432.3:c.69873T>C (TTN) NP_597676.3:p.Gly23291=
NM_133437.4:c.70074T>C (TTN) NP_597681.4:p.Gly23358=
NR_038271.1:n.446+19644A>G (TTN-AS1)
NR_038272.1:n.2043+919A>G (TTN-AS1)
XM_011511729.1:c.95790T>C (TTN) XP_011510031.1:p.Gly31930=
XM_011511730.1:c.69684T>C (TTN) XP_011510032.1:p.Gly23228=
XM_011511731.1:c.69543T>C (TTN) XP_011510033.1:p.Gly23181=
XM_017004819.1:c.95586T>C (TTN) XP_016860308.1:p.Gly31862=
XM_017004820.1:c.90984T>C (TTN) XP_016860309.1:p.Gly30328=
XM_017004821.1:c.90981T>C (TTN) XP_016860310.1:p.Gly30327=
XM_017004822.1:c.88023T>C (TTN) XP_016860311.1:p.Gly29341=
XM_017004823.1:c.69639T>C (TTN) XP_016860312.1:p.Gly23213=
XM_024453094.1:c.91134T>C (TTN) XP_024308862.1:p.Gly30378=
XM_024453095.1:c.91131T>C (TTN) XP_024308863.1:p.Gly30377=
XM_024453096.1:c.90564T>C (TTN) XP_024308864.1:p.Gly30188=
XM_024453097.1:c.87906T>C (TTN) XP_024308865.1:p.Gly29302=
XM_024453098.1:c.87825T>C (TTN) XP_024308866.1:p.Gly29275=
XM_024453099.1:c.69588T>C (TTN) XP_024308867.1:p.Gly23196=
XM_024453100.1:c.59442T>C (TTN) XP_024308868.1:p.Gly19814=