Canonical Allele Identifier: CA430241417

Linked Data

MyVariant Identifiers: chr2:g.179408574A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543847A>C , CM000664.2:g.178543847A>C GRCh38
NC_000002.11:g.179408574A>C , CM000664.1:g.179408574A>C GRCh37
NC_000002.10:g.179116820A>C NCBI36
NG_011618.3:g.291956T>G , LRG_391:g.291956T>G
NG_051363.1:g.26021A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88593T>G (TTN) ENSP00000343764.6:p.Leu29531=
ENST00000342175.11:c.69678T>G (TTN) ENSP00000340554.6:p.Leu23226=
ENST00000359218.10:c.69477T>G (TTN) ENSP00000352154.5:p.Leu23159=
ENST00000342175.10:c.69678T>G (TTN) ENSP00000340554.6:p.Leu23226=
ENST00000342992.10:c.88593T>G (TTN) ENSP00000343764.6:p.Leu29531=
ENST00000359218.9:c.69477T>G (TTN) ENSP00000352154.5:p.Leu23159=
ENST00000460472.6:c.69102T>G (TTN) ENSP00000434586.1:p.Leu23034=
ENST00000589042.5:c.96297T>G (TTN) MANE Select ENSP00000467141.1:p.Leu32099=
ENST00000591111.5:c.91374T>G (TTN) ENSP00000465570.1:p.Leu30458=
ENST00000615779.4:c.91374T>G (TTN) ENSP00000483597.1:p.Leu30458=
NM_001256850.1:c.91374T>G (TTN) NP_001243779.1:p.Leu30458=
NM_001267550.2:c.96297T>G (TTN) MANE Select NP_001254479.2:p.Leu32099=
NM_003319.4:c.69102T>G (TTN) NP_003310.4:p.Leu23034=
NM_133378.4:c.88593T>G (TTN) NP_596869.4:p.Leu29531=
NM_133432.3:c.69477T>G (TTN) NP_597676.3:p.Leu23159=
NM_133437.4:c.69678T>G (TTN) NP_597681.4:p.Leu23226=
NR_038271.1:n.446+20211A>C (TTN-AS1)
NR_038272.1:n.2043+1486A>C (TTN-AS1)
XM_011511729.1:c.95394T>G (TTN) XP_011510031.1:p.Leu31798=
XM_011511730.1:c.69288T>G (TTN) XP_011510032.1:p.Leu23096=
XM_011511731.1:c.69147T>G (TTN) XP_011510033.1:p.Leu23049=
XM_017004819.1:c.95190T>G (TTN) XP_016860308.1:p.Leu31730=
XM_017004820.1:c.90588T>G (TTN) XP_016860309.1:p.Leu30196=
XM_017004821.1:c.90585T>G (TTN) XP_016860310.1:p.Leu30195=
XM_017004822.1:c.87627T>G (TTN) XP_016860311.1:p.Leu29209=
XM_017004823.1:c.69243T>G (TTN) XP_016860312.1:p.Leu23081=
XM_024453094.1:c.90738T>G (TTN) XP_024308862.1:p.Leu30246=
XM_024453095.1:c.90735T>G (TTN) XP_024308863.1:p.Leu30245=
XM_024453096.1:c.90168T>G (TTN) XP_024308864.1:p.Leu30056=
XM_024453097.1:c.87510T>G (TTN) XP_024308865.1:p.Leu29170=
XM_024453098.1:c.87429T>G (TTN) XP_024308866.1:p.Leu29143=
XM_024453099.1:c.69192T>G (TTN) XP_024308867.1:p.Leu23064=
XM_024453100.1:c.59046T>G (TTN) XP_024308868.1:p.Leu19682=