Canonical Allele Identifier: CA430242425

Linked Data

MyVariant Identifiers: chr2:g.179411436A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546709A>G , CM000664.2:g.178546709A>G GRCh38
NC_000002.11:g.179411436A>G , CM000664.1:g.179411436A>G GRCh37
NC_000002.10:g.179119682A>G NCBI36
NG_011618.3:g.289094T>C , LRG_391:g.289094T>C
NG_051363.1:g.28883A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.87015T>C (TTN) ENSP00000343764.6:p.Ala29005=
ENST00000342175.11:c.68100T>C (TTN) ENSP00000340554.6:p.Ala22700=
ENST00000359218.10:c.67899T>C (TTN) ENSP00000352154.5:p.Ala22633=
ENST00000342175.10:c.68100T>C (TTN) ENSP00000340554.6:p.Ala22700=
ENST00000342992.10:c.87015T>C (TTN) ENSP00000343764.6:p.Ala29005=
ENST00000359218.9:c.67899T>C (TTN) ENSP00000352154.5:p.Ala22633=
ENST00000460472.6:c.67524T>C (TTN) ENSP00000434586.1:p.Ala22508=
ENST00000589042.5:c.94719T>C (TTN) MANE Select ENSP00000467141.1:p.Ala31573=
ENST00000591111.5:c.89796T>C (TTN) ENSP00000465570.1:p.Ala29932=
ENST00000615779.4:c.89796T>C (TTN) ENSP00000483597.1:p.Ala29932=
NM_001256850.1:c.89796T>C (TTN) NP_001243779.1:p.Ala29932=
NM_001267550.2:c.94719T>C (TTN) MANE Select NP_001254479.2:p.Ala31573=
NM_003319.4:c.67524T>C (TTN) NP_003310.4:p.Ala22508=
NM_133378.4:c.87015T>C (TTN) NP_596869.4:p.Ala29005=
NM_133432.3:c.67899T>C (TTN) NP_597676.3:p.Ala22633=
NM_133437.4:c.68100T>C (TTN) NP_597681.4:p.Ala22700=
NR_038271.1:n.446+23073A>G (TTN-AS1)
NR_038272.1:n.2043+4348A>G (TTN-AS1)
XM_011511729.1:c.93816T>C (TTN) XP_011510031.1:p.Ala31272=
XM_011511730.1:c.67710T>C (TTN) XP_011510032.1:p.Ala22570=
XM_011511731.1:c.67569T>C (TTN) XP_011510033.1:p.Ala22523=
XM_017004819.1:c.93612T>C (TTN) XP_016860308.1:p.Ala31204=
XM_017004820.1:c.89010T>C (TTN) XP_016860309.1:p.Ala29670=
XM_017004821.1:c.89007T>C (TTN) XP_016860310.1:p.Ala29669=
XM_017004822.1:c.86049T>C (TTN) XP_016860311.1:p.Ala28683=
XM_017004823.1:c.67665T>C (TTN) XP_016860312.1:p.Ala22555=
XM_024453094.1:c.89160T>C (TTN) XP_024308862.1:p.Ala29720=
XM_024453095.1:c.89157T>C (TTN) XP_024308863.1:p.Ala29719=
XM_024453096.1:c.88590T>C (TTN) XP_024308864.1:p.Ala29530=
XM_024453097.1:c.85932T>C (TTN) XP_024308865.1:p.Ala28644=
XM_024453098.1:c.85851T>C (TTN) XP_024308866.1:p.Ala28617=
XM_024453099.1:c.67614T>C (TTN) XP_024308867.1:p.Ala22538=
XM_024453100.1:c.57468T>C (TTN) XP_024308868.1:p.Ala19156=