Canonical Allele Identifier: CA430254784

Linked Data

MyVariant Identifiers: chr2:g.179435190T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178570463T>A , CM000664.2:g.178570463T>A GRCh38
NC_000002.11:g.179435190T>A , CM000664.1:g.179435190T>A GRCh37
NC_000002.10:g.179143436T>A NCBI36
NG_011618.3:g.265340A>T , LRG_391:g.265340A>T
NG_051363.1:g.52637T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.67965A>T (TTN) ENSP00000343764.6:p.Thr22655=
ENST00000342175.11:c.49050A>T (TTN) ENSP00000340554.6:p.Thr16350=
ENST00000359218.10:c.48849A>T (TTN) ENSP00000352154.5:p.Thr16283=
ENST00000342175.10:c.49050A>T (TTN) ENSP00000340554.6:p.Thr16350=
ENST00000342992.10:c.67965A>T (TTN) ENSP00000343764.6:p.Thr22655=
ENST00000359218.9:c.48849A>T (TTN) ENSP00000352154.5:p.Thr16283=
ENST00000460472.6:c.48474A>T (TTN) ENSP00000434586.1:p.Thr16158=
ENST00000589042.5:c.75669A>T (TTN) MANE Select ENSP00000467141.1:p.Thr25223=
ENST00000591111.5:c.70746A>T (TTN) ENSP00000465570.1:p.Thr23582=
ENST00000615779.4:c.70746A>T (TTN) ENSP00000483597.1:p.Thr23582=
NM_001256850.1:c.70746A>T (TTN) NP_001243779.1:p.Thr23582=
NM_001267550.2:c.75669A>T (TTN) MANE Select NP_001254479.2:p.Thr25223=
NM_003319.4:c.48474A>T (TTN) NP_003310.4:p.Thr16158=
NM_133378.4:c.67965A>T (TTN) NP_596869.4:p.Thr22655=
NM_133432.3:c.48849A>T (TTN) NP_597676.3:p.Thr16283=
NM_133437.4:c.49050A>T (TTN) NP_597681.4:p.Thr16350=
NR_038271.1:n.447-837T>A (TTN-AS1)
NR_038272.1:n.2044-12109T>A (TTN-AS1)
XM_011511729.1:c.74766A>T (TTN) XP_011510031.1:p.Thr24922=
XM_011511730.1:c.48660A>T (TTN) XP_011510032.1:p.Thr16220=
XM_011511731.1:c.48519A>T (TTN) XP_011510033.1:p.Thr16173=
XM_017004819.1:c.74562A>T (TTN) XP_016860308.1:p.Thr24854=
XM_017004820.1:c.69960A>T (TTN) XP_016860309.1:p.Thr23320=
XM_017004821.1:c.69957A>T (TTN) XP_016860310.1:p.Thr23319=
XM_017004822.1:c.66999A>T (TTN) XP_016860311.1:p.Thr22333=
XM_017004823.1:c.48615A>T (TTN) XP_016860312.1:p.Thr16205=
XM_024453094.1:c.70110A>T (TTN) XP_024308862.1:p.Thr23370=
XM_024453095.1:c.70107A>T (TTN) XP_024308863.1:p.Thr23369=
XM_024453096.1:c.69540A>T (TTN) XP_024308864.1:p.Thr23180=
XM_024453097.1:c.66882A>T (TTN) XP_024308865.1:p.Thr22294=
XM_024453098.1:c.66801A>T (TTN) XP_024308866.1:p.Thr22267=
XM_024453099.1:c.48564A>T (TTN) XP_024308867.1:p.Thr16188=
XM_024453100.1:c.38418A>T (TTN) XP_024308868.1:p.Thr12806=