Canonical Allele Identifier: CA430257151

Linked Data

MyVariant Identifiers: chr2:g.179438772T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178574045T>A , CM000664.2:g.178574045T>A GRCh38
NC_000002.11:g.179438772T>A , CM000664.1:g.179438772T>A GRCh37
NC_000002.10:g.179147018T>A NCBI36
NG_011618.3:g.261758A>T , LRG_391:g.261758A>T
NG_051363.1:g.56219T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.64383A>T (TTN) ENSP00000343764.6:p.Ile21461=
ENST00000342175.11:c.45468A>T (TTN) ENSP00000340554.6:p.Ile15156=
ENST00000359218.10:c.45267A>T (TTN) ENSP00000352154.5:p.Ile15089=
ENST00000342175.10:c.45468A>T (TTN) ENSP00000340554.6:p.Ile15156=
ENST00000342992.10:c.64383A>T (TTN) ENSP00000343764.6:p.Ile21461=
ENST00000359218.9:c.45267A>T (TTN) ENSP00000352154.5:p.Ile15089=
ENST00000460472.6:c.44892A>T (TTN) ENSP00000434586.1:p.Ile14964=
ENST00000589042.5:c.72087A>T (TTN) MANE Select ENSP00000467141.1:p.Ile24029=
ENST00000591111.5:c.67164A>T (TTN) ENSP00000465570.1:p.Ile22388=
ENST00000615779.4:c.67164A>T (TTN) ENSP00000483597.1:p.Ile22388=
NM_001256850.1:c.67164A>T (TTN) NP_001243779.1:p.Ile22388=
NM_001267550.2:c.72087A>T (TTN) MANE Select NP_001254479.2:p.Ile24029=
NM_003319.4:c.44892A>T (TTN) NP_003310.4:p.Ile14964=
NM_133378.4:c.64383A>T (TTN) NP_596869.4:p.Ile21461=
NM_133432.3:c.45267A>T (TTN) NP_597676.3:p.Ile15089=
NM_133437.4:c.45468A>T (TTN) NP_597681.4:p.Ile15156=
NR_038271.1:n.596+2596T>A (TTN-AS1)
NR_038272.1:n.2044-8527T>A (TTN-AS1)
XM_011511729.1:c.71184A>T (TTN) XP_011510031.1:p.Ile23728=
XM_011511730.1:c.45078A>T (TTN) XP_011510032.1:p.Ile15026=
XM_011511731.1:c.44937A>T (TTN) XP_011510033.1:p.Ile14979=
XM_017004819.1:c.70980A>T (TTN) XP_016860308.1:p.Ile23660=
XM_017004820.1:c.66378A>T (TTN) XP_016860309.1:p.Ile22126=
XM_017004821.1:c.66375A>T (TTN) XP_016860310.1:p.Ile22125=
XM_017004822.1:c.63417A>T (TTN) XP_016860311.1:p.Ile21139=
XM_017004823.1:c.45033A>T (TTN) XP_016860312.1:p.Ile15011=
XM_024453094.1:c.66528A>T (TTN) XP_024308862.1:p.Ile22176=
XM_024453095.1:c.66525A>T (TTN) XP_024308863.1:p.Ile22175=
XM_024453096.1:c.65958A>T (TTN) XP_024308864.1:p.Ile21986=
XM_024453097.1:c.63300A>T (TTN) XP_024308865.1:p.Ile21100=
XM_024453098.1:c.63219A>T (TTN) XP_024308866.1:p.Ile21073=
XM_024453099.1:c.44982A>T (TTN) XP_024308867.1:p.Ile14994=
XM_024453100.1:c.34836A>T (TTN) XP_024308868.1:p.Ile11612=