Canonical Allele Identifier: CA430235877

Linked Data

MyVariant Identifiers: chr2:g.179396843C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532116C>A , CM000664.2:g.178532116C>A GRCh38
NC_000002.11:g.179396843C>A , CM000664.1:g.179396843C>A GRCh37
NC_000002.10:g.179105089C>A NCBI36
NG_011618.3:g.303687G>T , LRG_391:g.303687G>T
NG_051363.1:g.14290C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96795G>T (TTN) ENSP00000343764.6:p.Ala32265=
ENST00000342175.11:c.77880G>T (TTN) ENSP00000340554.6:p.Ala25960=
ENST00000359218.10:c.77679G>T (TTN) ENSP00000352154.5:p.Ala25893=
ENST00000342175.10:c.77880G>T (TTN) ENSP00000340554.6:p.Ala25960=
ENST00000342992.10:c.96795G>T (TTN) ENSP00000343764.6:p.Ala32265=
ENST00000359218.9:c.77679G>T (TTN) ENSP00000352154.5:p.Ala25893=
ENST00000460472.6:c.77304G>T (TTN) ENSP00000434586.1:p.Ala25768=
ENST00000589042.5:c.104499G>T (TTN) MANE Select ENSP00000467141.1:p.Ala34833=
ENST00000591111.5:c.99576G>T (TTN) ENSP00000465570.1:p.Ala33192=
ENST00000615779.4:c.99576G>T (TTN) ENSP00000483597.1:p.Ala33192=
NM_001256850.1:c.99576G>T (TTN) NP_001243779.1:p.Ala33192=
NM_001267550.2:c.104499G>T (TTN) MANE Select NP_001254479.2:p.Ala34833=
NM_003319.4:c.77304G>T (TTN) NP_003310.4:p.Ala25768=
NM_133378.4:c.96795G>T (TTN) NP_596869.4:p.Ala32265=
NM_133432.3:c.77679G>T (TTN) NP_597676.3:p.Ala25893=
NM_133437.4:c.77880G>T (TTN) NP_597681.4:p.Ala25960=
NR_038271.1:n.446+8480C>A (TTN-AS1)
NR_038272.1:n.220-3616C>A (TTN-AS1)
XM_011511729.1:c.103596G>T (TTN) XP_011510031.1:p.Ala34532=
XM_011511730.1:c.77490G>T (TTN) XP_011510032.1:p.Ala25830=
XM_011511731.1:c.77349G>T (TTN) XP_011510033.1:p.Ala25783=
XM_017004819.1:c.103392G>T (TTN) XP_016860308.1:p.Ala34464=
XM_017004820.1:c.98790G>T (TTN) XP_016860309.1:p.Ala32930=
XM_017004821.1:c.98787G>T (TTN) XP_016860310.1:p.Ala32929=
XM_017004822.1:c.95829G>T (TTN) XP_016860311.1:p.Ala31943=
XM_017004823.1:c.77445G>T (TTN) XP_016860312.1:p.Ala25815=
XM_024453094.1:c.98940G>T (TTN) XP_024308862.1:p.Ala32980=
XM_024453095.1:c.98937G>T (TTN) XP_024308863.1:p.Ala32979=
XM_024453096.1:c.98370G>T (TTN) XP_024308864.1:p.Ala32790=
XM_024453097.1:c.95712G>T (TTN) XP_024308865.1:p.Ala31904=
XM_024453098.1:c.95631G>T (TTN) XP_024308866.1:p.Ala31877=
XM_024453099.1:c.77394G>T (TTN) XP_024308867.1:p.Ala25798=
XM_024453100.1:c.67248G>T (TTN) XP_024308868.1:p.Ala22416=