Canonical Allele Identifier: CA430241889

Linked Data

MyVariant Identifiers: chr2:g.179409120G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544393G>A , CM000664.2:g.178544393G>A GRCh38
NC_000002.11:g.179409120G>A , CM000664.1:g.179409120G>A GRCh37
NC_000002.10:g.179117366G>A NCBI36
NG_011618.3:g.291410C>T , LRG_391:g.291410C>T
NG_051363.1:g.26567G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88132C>T (TTN) ENSP00000343764.6:p.Leu29378=
ENST00000342175.11:c.69217C>T (TTN) ENSP00000340554.6:p.Leu23073=
ENST00000359218.10:c.69016C>T (TTN) ENSP00000352154.5:p.Leu23006=
ENST00000342175.10:c.69217C>T (TTN) ENSP00000340554.6:p.Leu23073=
ENST00000342992.10:c.88132C>T (TTN) ENSP00000343764.6:p.Leu29378=
ENST00000359218.9:c.69016C>T (TTN) ENSP00000352154.5:p.Leu23006=
ENST00000460472.6:c.68641C>T (TTN) ENSP00000434586.1:p.Leu22881=
ENST00000589042.5:c.95836C>T (TTN) MANE Select ENSP00000467141.1:p.Leu31946=
ENST00000591111.5:c.90913C>T (TTN) ENSP00000465570.1:p.Leu30305=
ENST00000615779.4:c.90913C>T (TTN) ENSP00000483597.1:p.Leu30305=
NM_001256850.1:c.90913C>T (TTN) NP_001243779.1:p.Leu30305=
NM_001267550.2:c.95836C>T (TTN) MANE Select NP_001254479.2:p.Leu31946=
NM_003319.4:c.68641C>T (TTN) NP_003310.4:p.Leu22881=
NM_133378.4:c.88132C>T (TTN) NP_596869.4:p.Leu29378=
NM_133432.3:c.69016C>T (TTN) NP_597676.3:p.Leu23006=
NM_133437.4:c.69217C>T (TTN) NP_597681.4:p.Leu23073=
NR_038271.1:n.446+20757G>A (TTN-AS1)
NR_038272.1:n.2043+2032G>A (TTN-AS1)
XM_011511729.1:c.94933C>T (TTN) XP_011510031.1:p.Leu31645=
XM_011511730.1:c.68827C>T (TTN) XP_011510032.1:p.Leu22943=
XM_011511731.1:c.68686C>T (TTN) XP_011510033.1:p.Leu22896=
XM_017004819.1:c.94729C>T (TTN) XP_016860308.1:p.Leu31577=
XM_017004820.1:c.90127C>T (TTN) XP_016860309.1:p.Leu30043=
XM_017004821.1:c.90124C>T (TTN) XP_016860310.1:p.Leu30042=
XM_017004822.1:c.87166C>T (TTN) XP_016860311.1:p.Leu29056=
XM_017004823.1:c.68782C>T (TTN) XP_016860312.1:p.Leu22928=
XM_024453094.1:c.90277C>T (TTN) XP_024308862.1:p.Leu30093=
XM_024453095.1:c.90274C>T (TTN) XP_024308863.1:p.Leu30092=
XM_024453096.1:c.89707C>T (TTN) XP_024308864.1:p.Leu29903=
XM_024453097.1:c.87049C>T (TTN) XP_024308865.1:p.Leu29017=
XM_024453098.1:c.86968C>T (TTN) XP_024308866.1:p.Leu28990=
XM_024453099.1:c.68731C>T (TTN) XP_024308867.1:p.Leu22911=
XM_024453100.1:c.58585C>T (TTN) XP_024308868.1:p.Leu19529=