Canonical Allele Identifier: CA430235915

Linked Data

MyVariant Identifiers: chr2:g.179396912T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532185T>C , CM000664.2:g.178532185T>C GRCh38
NC_000002.11:g.179396912T>C , CM000664.1:g.179396912T>C GRCh37
NC_000002.10:g.179105158T>C NCBI36
NG_011618.3:g.303618A>G , LRG_391:g.303618A>G
NG_051363.1:g.14359T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96726A>G (TTN) ENSP00000343764.6:p.Thr32242=
ENST00000342175.11:c.77811A>G (TTN) ENSP00000340554.6:p.Thr25937=
ENST00000359218.10:c.77610A>G (TTN) ENSP00000352154.5:p.Thr25870=
ENST00000342175.10:c.77811A>G (TTN) ENSP00000340554.6:p.Thr25937=
ENST00000342992.10:c.96726A>G (TTN) ENSP00000343764.6:p.Thr32242=
ENST00000359218.9:c.77610A>G (TTN) ENSP00000352154.5:p.Thr25870=
ENST00000460472.6:c.77235A>G (TTN) ENSP00000434586.1:p.Thr25745=
ENST00000589042.5:c.104430A>G (TTN) MANE Select ENSP00000467141.1:p.Thr34810=
ENST00000591111.5:c.99507A>G (TTN) ENSP00000465570.1:p.Thr33169=
ENST00000615779.4:c.99507A>G (TTN) ENSP00000483597.1:p.Thr33169=
NM_001256850.1:c.99507A>G (TTN) NP_001243779.1:p.Thr33169=
NM_001267550.2:c.104430A>G (TTN) MANE Select NP_001254479.2:p.Thr34810=
NM_003319.4:c.77235A>G (TTN) NP_003310.4:p.Thr25745=
NM_133378.4:c.96726A>G (TTN) NP_596869.4:p.Thr32242=
NM_133432.3:c.77610A>G (TTN) NP_597676.3:p.Thr25870=
NM_133437.4:c.77811A>G (TTN) NP_597681.4:p.Thr25937=
NR_038271.1:n.446+8549T>C (TTN-AS1)
NR_038272.1:n.220-3547T>C (TTN-AS1)
XM_011511729.1:c.103527A>G (TTN) XP_011510031.1:p.Thr34509=
XM_011511730.1:c.77421A>G (TTN) XP_011510032.1:p.Thr25807=
XM_011511731.1:c.77280A>G (TTN) XP_011510033.1:p.Thr25760=
XM_017004819.1:c.103323A>G (TTN) XP_016860308.1:p.Thr34441=
XM_017004820.1:c.98721A>G (TTN) XP_016860309.1:p.Thr32907=
XM_017004821.1:c.98718A>G (TTN) XP_016860310.1:p.Thr32906=
XM_017004822.1:c.95760A>G (TTN) XP_016860311.1:p.Thr31920=
XM_017004823.1:c.77376A>G (TTN) XP_016860312.1:p.Thr25792=
XM_024453094.1:c.98871A>G (TTN) XP_024308862.1:p.Thr32957=
XM_024453095.1:c.98868A>G (TTN) XP_024308863.1:p.Thr32956=
XM_024453096.1:c.98301A>G (TTN) XP_024308864.1:p.Thr32767=
XM_024453097.1:c.95643A>G (TTN) XP_024308865.1:p.Thr31881=
XM_024453098.1:c.95562A>G (TTN) XP_024308866.1:p.Thr31854=
XM_024453099.1:c.77325A>G (TTN) XP_024308867.1:p.Thr25775=
XM_024453100.1:c.67179A>G (TTN) XP_024308868.1:p.Thr22393=