Canonical Allele Identifier: CA430235908

Linked Data

MyVariant Identifiers: chr2:g.179396903T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532176T>A , CM000664.2:g.178532176T>A GRCh38
NC_000002.11:g.179396903T>A , CM000664.1:g.179396903T>A GRCh37
NC_000002.10:g.179105149T>A NCBI36
NG_011618.3:g.303627A>T , LRG_391:g.303627A>T
NG_051363.1:g.14350T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96735A>T (TTN) ENSP00000343764.6:p.Thr32245=
ENST00000342175.11:c.77820A>T (TTN) ENSP00000340554.6:p.Thr25940=
ENST00000359218.10:c.77619A>T (TTN) ENSP00000352154.5:p.Thr25873=
ENST00000342175.10:c.77820A>T (TTN) ENSP00000340554.6:p.Thr25940=
ENST00000342992.10:c.96735A>T (TTN) ENSP00000343764.6:p.Thr32245=
ENST00000359218.9:c.77619A>T (TTN) ENSP00000352154.5:p.Thr25873=
ENST00000460472.6:c.77244A>T (TTN) ENSP00000434586.1:p.Thr25748=
ENST00000589042.5:c.104439A>T (TTN) MANE Select ENSP00000467141.1:p.Thr34813=
ENST00000591111.5:c.99516A>T (TTN) ENSP00000465570.1:p.Thr33172=
ENST00000615779.4:c.99516A>T (TTN) ENSP00000483597.1:p.Thr33172=
NM_001256850.1:c.99516A>T (TTN) NP_001243779.1:p.Thr33172=
NM_001267550.2:c.104439A>T (TTN) MANE Select NP_001254479.2:p.Thr34813=
NM_003319.4:c.77244A>T (TTN) NP_003310.4:p.Thr25748=
NM_133378.4:c.96735A>T (TTN) NP_596869.4:p.Thr32245=
NM_133432.3:c.77619A>T (TTN) NP_597676.3:p.Thr25873=
NM_133437.4:c.77820A>T (TTN) NP_597681.4:p.Thr25940=
NR_038271.1:n.446+8540T>A (TTN-AS1)
NR_038272.1:n.220-3556T>A (TTN-AS1)
XM_011511729.1:c.103536A>T (TTN) XP_011510031.1:p.Thr34512=
XM_011511730.1:c.77430A>T (TTN) XP_011510032.1:p.Thr25810=
XM_011511731.1:c.77289A>T (TTN) XP_011510033.1:p.Thr25763=
XM_017004819.1:c.103332A>T (TTN) XP_016860308.1:p.Thr34444=
XM_017004820.1:c.98730A>T (TTN) XP_016860309.1:p.Thr32910=
XM_017004821.1:c.98727A>T (TTN) XP_016860310.1:p.Thr32909=
XM_017004822.1:c.95769A>T (TTN) XP_016860311.1:p.Thr31923=
XM_017004823.1:c.77385A>T (TTN) XP_016860312.1:p.Thr25795=
XM_024453094.1:c.98880A>T (TTN) XP_024308862.1:p.Thr32960=
XM_024453095.1:c.98877A>T (TTN) XP_024308863.1:p.Thr32959=
XM_024453096.1:c.98310A>T (TTN) XP_024308864.1:p.Thr32770=
XM_024453097.1:c.95652A>T (TTN) XP_024308865.1:p.Thr31884=
XM_024453098.1:c.95571A>T (TTN) XP_024308866.1:p.Thr31857=
XM_024453099.1:c.77334A>T (TTN) XP_024308867.1:p.Thr25778=
XM_024453100.1:c.67188A>T (TTN) XP_024308868.1:p.Thr22396=