Canonical Allele Identifier: CA430235038

Linked Data

MyVariant Identifiers: chr2:g.179394992A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530265A>T , CM000664.2:g.178530265A>T GRCh38
NC_000002.11:g.179394992A>T , CM000664.1:g.179394992A>T GRCh37
NC_000002.10:g.179103238A>T NCBI36
NG_011618.3:g.305538T>A , LRG_391:g.305538T>A
NG_051363.1:g.12439A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98646T>A (TTN) ENSP00000343764.6:p.Thr32882=
ENST00000342175.11:c.79731T>A (TTN) ENSP00000340554.6:p.Thr26577=
ENST00000359218.10:c.79530T>A (TTN) ENSP00000352154.5:p.Thr26510=
ENST00000342175.10:c.79731T>A (TTN) ENSP00000340554.6:p.Thr26577=
ENST00000342992.10:c.98646T>A (TTN) ENSP00000343764.6:p.Thr32882=
ENST00000359218.9:c.79530T>A (TTN) ENSP00000352154.5:p.Thr26510=
ENST00000460472.6:c.79155T>A (TTN) ENSP00000434586.1:p.Thr26385=
ENST00000589042.5:c.106350T>A (TTN) MANE Select ENSP00000467141.1:p.Thr35450=
ENST00000591111.5:c.101427T>A (TTN) ENSP00000465570.1:p.Thr33809=
ENST00000615779.4:c.101427T>A (TTN) ENSP00000483597.1:p.Thr33809=
NM_001256850.1:c.101427T>A (TTN) NP_001243779.1:p.Thr33809=
NM_001267550.2:c.106350T>A (TTN) MANE Select NP_001254479.2:p.Thr35450=
NM_003319.4:c.79155T>A (TTN) NP_003310.4:p.Thr26385=
NM_133378.4:c.98646T>A (TTN) NP_596869.4:p.Thr32882=
NM_133432.3:c.79530T>A (TTN) NP_597676.3:p.Thr26510=
NM_133437.4:c.79731T>A (TTN) NP_597681.4:p.Thr26577=
NR_038271.1:n.446+6629A>T (TTN-AS1)
NR_038272.1:n.220-5467A>T (TTN-AS1)
XM_011511729.1:c.105447T>A (TTN) XP_011510031.1:p.Thr35149=
XM_011511730.1:c.79341T>A (TTN) XP_011510032.1:p.Thr26447=
XM_011511731.1:c.79200T>A (TTN) XP_011510033.1:p.Thr26400=
XM_017004819.1:c.105243T>A (TTN) XP_016860308.1:p.Thr35081=
XM_017004820.1:c.100641T>A (TTN) XP_016860309.1:p.Thr33547=
XM_017004821.1:c.100638T>A (TTN) XP_016860310.1:p.Thr33546=
XM_017004822.1:c.97680T>A (TTN) XP_016860311.1:p.Thr32560=
XM_017004823.1:c.79296T>A (TTN) XP_016860312.1:p.Thr26432=
XM_024453094.1:c.100791T>A (TTN) XP_024308862.1:p.Thr33597=
XM_024453095.1:c.100788T>A (TTN) XP_024308863.1:p.Thr33596=
XM_024453096.1:c.100221T>A (TTN) XP_024308864.1:p.Thr33407=
XM_024453097.1:c.97563T>A (TTN) XP_024308865.1:p.Thr32521=
XM_024453098.1:c.97482T>A (TTN) XP_024308866.1:p.Thr32494=
XM_024453099.1:c.79245T>A (TTN) XP_024308867.1:p.Thr26415=
XM_024453100.1:c.69099T>A (TTN) XP_024308868.1:p.Thr23033=