Canonical Allele Identifier: CA430103981

Linked Data

MyVariant Identifiers: chr2:g.179416361T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178551634T>C , CM000664.2:g.178551634T>C GRCh38
NC_000002.11:g.179416361T>C , CM000664.1:g.179416361T>C GRCh37
NC_000002.10:g.179124607T>C NCBI36
NG_011618.3:g.284169A>G , LRG_391:g.284169A>G
NG_051363.1:g.33808T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.83562A>G (TTN) ENSP00000343764.6:p.Pro27854=
ENST00000342175.11:c.64647A>G (TTN) ENSP00000340554.6:p.Pro21549=
ENST00000359218.10:c.64446A>G (TTN) ENSP00000352154.5:p.Pro21482=
ENST00000342175.10:c.64647A>G (TTN) ENSP00000340554.6:p.Pro21549=
ENST00000342992.10:c.83562A>G (TTN) ENSP00000343764.6:p.Pro27854=
ENST00000359218.9:c.64446A>G (TTN) ENSP00000352154.5:p.Pro21482=
ENST00000460472.6:c.64071A>G (TTN) ENSP00000434586.1:p.Pro21357=
ENST00000589042.5:c.91266A>G (TTN) MANE Select ENSP00000467141.1:p.Pro30422=
ENST00000591111.5:c.86343A>G (TTN) ENSP00000465570.1:p.Pro28781=
ENST00000615779.4:c.86343A>G (TTN) ENSP00000483597.1:p.Pro28781=
NM_001256850.1:c.86343A>G (TTN) NP_001243779.1:p.Pro28781=
NM_001267550.2:c.91266A>G (TTN) MANE Select NP_001254479.2:p.Pro30422=
NM_003319.4:c.64071A>G (TTN) NP_003310.4:p.Pro21357=
NM_133378.4:c.83562A>G (TTN) NP_596869.4:p.Pro27854=
NM_133432.3:c.64446A>G (TTN) NP_597676.3:p.Pro21482=
NM_133437.4:c.64647A>G (TTN) NP_597681.4:p.Pro21549=
NR_038271.1:n.447-19666T>C (TTN-AS1)
NR_038272.1:n.2043+9273T>C (TTN-AS1)
XM_011511729.1:c.90363A>G (TTN) XP_011510031.1:p.Pro30121=
XM_011511730.1:c.64257A>G (TTN) XP_011510032.1:p.Pro21419=
XM_011511731.1:c.64116A>G (TTN) XP_011510033.1:p.Pro21372=
XM_017004819.1:c.90159A>G (TTN) XP_016860308.1:p.Pro30053=
XM_017004820.1:c.85557A>G (TTN) XP_016860309.1:p.Pro28519=
XM_017004821.1:c.85554A>G (TTN) XP_016860310.1:p.Pro28518=
XM_017004822.1:c.82596A>G (TTN) XP_016860311.1:p.Pro27532=
XM_017004823.1:c.64212A>G (TTN) XP_016860312.1:p.Pro21404=
XM_024453094.1:c.85707A>G (TTN) XP_024308862.1:p.Pro28569=
XM_024453095.1:c.85704A>G (TTN) XP_024308863.1:p.Pro28568=
XM_024453096.1:c.85137A>G (TTN) XP_024308864.1:p.Pro28379=
XM_024453097.1:c.82479A>G (TTN) XP_024308865.1:p.Pro27493=
XM_024453098.1:c.82398A>G (TTN) XP_024308866.1:p.Pro27466=
XM_024453099.1:c.64161A>G (TTN) XP_024308867.1:p.Pro21387=
XM_024453100.1:c.54015A>G (TTN) XP_024308868.1:p.Pro18005=