Canonical Allele Identifier: CA430242414

Linked Data

MyVariant Identifiers: chr2:g.179411418A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546691A>G , CM000664.2:g.178546691A>G GRCh38
NC_000002.11:g.179411418A>G , CM000664.1:g.179411418A>G GRCh37
NC_000002.10:g.179119664A>G NCBI36
NG_011618.3:g.289112T>C , LRG_391:g.289112T>C
NG_051363.1:g.28865A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.87033T>C (TTN) ENSP00000343764.6:p.Thr29011=
ENST00000342175.11:c.68118T>C (TTN) ENSP00000340554.6:p.Thr22706=
ENST00000359218.10:c.67917T>C (TTN) ENSP00000352154.5:p.Thr22639=
ENST00000342175.10:c.68118T>C (TTN) ENSP00000340554.6:p.Thr22706=
ENST00000342992.10:c.87033T>C (TTN) ENSP00000343764.6:p.Thr29011=
ENST00000359218.9:c.67917T>C (TTN) ENSP00000352154.5:p.Thr22639=
ENST00000460472.6:c.67542T>C (TTN) ENSP00000434586.1:p.Thr22514=
ENST00000589042.5:c.94737T>C (TTN) MANE Select ENSP00000467141.1:p.Thr31579=
ENST00000591111.5:c.89814T>C (TTN) ENSP00000465570.1:p.Thr29938=
ENST00000615779.4:c.89814T>C (TTN) ENSP00000483597.1:p.Thr29938=
NM_001256850.1:c.89814T>C (TTN) NP_001243779.1:p.Thr29938=
NM_001267550.2:c.94737T>C (TTN) MANE Select NP_001254479.2:p.Thr31579=
NM_003319.4:c.67542T>C (TTN) NP_003310.4:p.Thr22514=
NM_133378.4:c.87033T>C (TTN) NP_596869.4:p.Thr29011=
NM_133432.3:c.67917T>C (TTN) NP_597676.3:p.Thr22639=
NM_133437.4:c.68118T>C (TTN) NP_597681.4:p.Thr22706=
NR_038271.1:n.446+23055A>G (TTN-AS1)
NR_038272.1:n.2043+4330A>G (TTN-AS1)
XM_011511729.1:c.93834T>C (TTN) XP_011510031.1:p.Thr31278=
XM_011511730.1:c.67728T>C (TTN) XP_011510032.1:p.Thr22576=
XM_011511731.1:c.67587T>C (TTN) XP_011510033.1:p.Thr22529=
XM_017004819.1:c.93630T>C (TTN) XP_016860308.1:p.Thr31210=
XM_017004820.1:c.89028T>C (TTN) XP_016860309.1:p.Thr29676=
XM_017004821.1:c.89025T>C (TTN) XP_016860310.1:p.Thr29675=
XM_017004822.1:c.86067T>C (TTN) XP_016860311.1:p.Thr28689=
XM_017004823.1:c.67683T>C (TTN) XP_016860312.1:p.Thr22561=
XM_024453094.1:c.89178T>C (TTN) XP_024308862.1:p.Thr29726=
XM_024453095.1:c.89175T>C (TTN) XP_024308863.1:p.Thr29725=
XM_024453096.1:c.88608T>C (TTN) XP_024308864.1:p.Thr29536=
XM_024453097.1:c.85950T>C (TTN) XP_024308865.1:p.Thr28650=
XM_024453098.1:c.85869T>C (TTN) XP_024308866.1:p.Thr28623=
XM_024453099.1:c.67632T>C (TTN) XP_024308867.1:p.Thr22544=
XM_024453100.1:c.57486T>C (TTN) XP_024308868.1:p.Thr19162=