Canonical Allele Identifier: CA430235000

Linked Data

MyVariant Identifiers: chr2:g.179395175T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530448T>A , CM000664.2:g.178530448T>A GRCh38
NC_000002.11:g.179395175T>A , CM000664.1:g.179395175T>A GRCh37
NC_000002.10:g.179103421T>A NCBI36
NG_011618.3:g.305355A>T , LRG_391:g.305355A>T
NG_051363.1:g.12622T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98463A>T (TTN) ENSP00000343764.6:p.Ile32821=
ENST00000342175.11:c.79548A>T (TTN) ENSP00000340554.6:p.Ile26516=
ENST00000359218.10:c.79347A>T (TTN) ENSP00000352154.5:p.Ile26449=
ENST00000342175.10:c.79548A>T (TTN) ENSP00000340554.6:p.Ile26516=
ENST00000342992.10:c.98463A>T (TTN) ENSP00000343764.6:p.Ile32821=
ENST00000359218.9:c.79347A>T (TTN) ENSP00000352154.5:p.Ile26449=
ENST00000460472.6:c.78972A>T (TTN) ENSP00000434586.1:p.Ile26324=
ENST00000589042.5:c.106167A>T (TTN) MANE Select ENSP00000467141.1:p.Ile35389=
ENST00000591111.5:c.101244A>T (TTN) ENSP00000465570.1:p.Ile33748=
ENST00000615779.4:c.101244A>T (TTN) ENSP00000483597.1:p.Ile33748=
NM_001256850.1:c.101244A>T (TTN) NP_001243779.1:p.Ile33748=
NM_001267550.2:c.106167A>T (TTN) MANE Select NP_001254479.2:p.Ile35389=
NM_003319.4:c.78972A>T (TTN) NP_003310.4:p.Ile26324=
NM_133378.4:c.98463A>T (TTN) NP_596869.4:p.Ile32821=
NM_133432.3:c.79347A>T (TTN) NP_597676.3:p.Ile26449=
NM_133437.4:c.79548A>T (TTN) NP_597681.4:p.Ile26516=
NR_038271.1:n.446+6812T>A (TTN-AS1)
NR_038272.1:n.220-5284T>A (TTN-AS1)
XM_011511729.1:c.105264A>T (TTN) XP_011510031.1:p.Ile35088=
XM_011511730.1:c.79158A>T (TTN) XP_011510032.1:p.Ile26386=
XM_011511731.1:c.79017A>T (TTN) XP_011510033.1:p.Ile26339=
XM_017004819.1:c.105060A>T (TTN) XP_016860308.1:p.Ile35020=
XM_017004820.1:c.100458A>T (TTN) XP_016860309.1:p.Ile33486=
XM_017004821.1:c.100455A>T (TTN) XP_016860310.1:p.Ile33485=
XM_017004822.1:c.97497A>T (TTN) XP_016860311.1:p.Ile32499=
XM_017004823.1:c.79113A>T (TTN) XP_016860312.1:p.Ile26371=
XM_024453094.1:c.100608A>T (TTN) XP_024308862.1:p.Ile33536=
XM_024453095.1:c.100605A>T (TTN) XP_024308863.1:p.Ile33535=
XM_024453096.1:c.100038A>T (TTN) XP_024308864.1:p.Ile33346=
XM_024453097.1:c.97380A>T (TTN) XP_024308865.1:p.Ile32460=
XM_024453098.1:c.97299A>T (TTN) XP_024308866.1:p.Ile32433=
XM_024453099.1:c.79062A>T (TTN) XP_024308867.1:p.Ile26354=
XM_024453100.1:c.68916A>T (TTN) XP_024308868.1:p.Ile22972=