Canonical Allele Identifier: CA430274870

Linked Data

MyVariant Identifiers: chr2:g.179483417A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178618690A>C , CM000664.2:g.178618690A>C GRCh38
NC_000002.11:g.179483417A>C , CM000664.1:g.179483417A>C GRCh37
NC_000002.10:g.179191662A>C NCBI36
NG_011618.3:g.217113T>G , LRG_391:g.217113T>G
NG_051363.1:g.100864A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.39156T>G (TTN) ENSP00000343764.6:p.Thr13052=
ENST00000342175.11:c.20241T>G (TTN) ENSP00000340554.6:p.Thr6747=
ENST00000359218.10:c.20040T>G (TTN) ENSP00000352154.5:p.Thr6680=
ENST00000342175.10:c.20241T>G (TTN) ENSP00000340554.6:p.Thr6747=
ENST00000342992.10:c.39156T>G (TTN) ENSP00000343764.6:p.Thr13052=
ENST00000359218.9:c.20040T>G (TTN) ENSP00000352154.5:p.Thr6680=
ENST00000460472.6:c.19665T>G (TTN) ENSP00000434586.1:p.Thr6555=
ENST00000589042.5:c.46860T>G (TTN) MANE Select ENSP00000467141.1:p.Thr15620=
ENST00000591111.5:c.41937T>G (TTN) ENSP00000465570.1:p.Thr13979=
ENST00000615779.4:c.41937T>G (TTN) ENSP00000483597.1:p.Thr13979=
NM_001256850.1:c.41937T>G (TTN) NP_001243779.1:p.Thr13979=
NM_001267550.2:c.46860T>G (TTN) MANE Select NP_001254479.2:p.Thr15620=
NM_003319.4:c.19665T>G (TTN) NP_003310.4:p.Thr6555=
NM_133378.4:c.39156T>G (TTN) NP_596869.4:p.Thr13052=
NM_133432.3:c.20040T>G (TTN) NP_597676.3:p.Thr6680=
NM_133437.4:c.20241T>G (TTN) NP_597681.4:p.Thr6747=
NR_038271.1:n.1605-1063A>C (TTN-AS1)
XM_011511729.1:c.45957T>G (TTN) XP_011510031.1:p.Thr15319=
XM_011511730.1:c.19851T>G (TTN) XP_011510032.1:p.Thr6617=
XM_011511731.1:c.19710T>G (TTN) XP_011510033.1:p.Thr6570=
XM_017004819.1:c.45753T>G (TTN) XP_016860308.1:p.Thr15251=
XM_017004820.1:c.41151T>G (TTN) XP_016860309.1:p.Thr13717=
XM_017004821.1:c.41148T>G (TTN) XP_016860310.1:p.Thr13716=
XM_017004822.1:c.38190T>G (TTN) XP_016860311.1:p.Thr12730=
XM_017004823.1:c.19806T>G (TTN) XP_016860312.1:p.Thr6602=
XM_024453094.1:c.41301T>G (TTN) XP_024308862.1:p.Thr13767=
XM_024453095.1:c.41298T>G (TTN) XP_024308863.1:p.Thr13766=
XM_024453096.1:c.40731T>G (TTN) XP_024308864.1:p.Thr13577=
XM_024453097.1:c.38073T>G (TTN) XP_024308865.1:p.Thr12691=
XM_024453098.1:c.37992T>G (TTN) XP_024308866.1:p.Thr12664=
XM_024453099.1:c.19755T>G (TTN) XP_024308867.1:p.Thr6585=
XM_024453100.1:c.9609T>G (TTN) XP_024308868.1:p.Thr3203=