Canonical Allele Identifier: CA430238918

Linked Data

MyVariant Identifiers: chr2:g.179402337A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178537610A>T , CM000664.2:g.178537610A>T GRCh38
NC_000002.11:g.179402337A>T , CM000664.1:g.179402337A>T GRCh37
NC_000002.10:g.179110583A>T NCBI36
NG_011618.3:g.298193T>A , LRG_391:g.298193T>A
NG_051363.1:g.19784A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.91893T>A (TTN) ENSP00000343764.6:p.Gly30631=
ENST00000342175.11:c.72978T>A (TTN) ENSP00000340554.6:p.Gly24326=
ENST00000359218.10:c.72777T>A (TTN) ENSP00000352154.5:p.Gly24259=
ENST00000342175.10:c.72978T>A (TTN) ENSP00000340554.6:p.Gly24326=
ENST00000342992.10:c.91893T>A (TTN) ENSP00000343764.6:p.Gly30631=
ENST00000359218.9:c.72777T>A (TTN) ENSP00000352154.5:p.Gly24259=
ENST00000460472.6:c.72402T>A (TTN) ENSP00000434586.1:p.Gly24134=
ENST00000589042.5:c.99597T>A (TTN) MANE Select ENSP00000467141.1:p.Gly33199=
ENST00000591111.5:c.94674T>A (TTN) ENSP00000465570.1:p.Gly31558=
ENST00000615779.4:c.94674T>A (TTN) ENSP00000483597.1:p.Gly31558=
NM_001256850.1:c.94674T>A (TTN) NP_001243779.1:p.Gly31558=
NM_001267550.2:c.99597T>A (TTN) MANE Select NP_001254479.2:p.Gly33199=
NM_003319.4:c.72402T>A (TTN) NP_003310.4:p.Gly24134=
NM_133378.4:c.91893T>A (TTN) NP_596869.4:p.Gly30631=
NM_133432.3:c.72777T>A (TTN) NP_597676.3:p.Gly24259=
NM_133437.4:c.72978T>A (TTN) NP_597681.4:p.Gly24326=
NR_038271.1:n.446+13974A>T (TTN-AS1)
NR_038272.1:n.566A>T (TTN-AS1)
XM_011511729.1:c.98694T>A (TTN) XP_011510031.1:p.Gly32898=
XM_011511730.1:c.72588T>A (TTN) XP_011510032.1:p.Gly24196=
XM_011511731.1:c.72447T>A (TTN) XP_011510033.1:p.Gly24149=
XM_017004819.1:c.98490T>A (TTN) XP_016860308.1:p.Gly32830=
XM_017004820.1:c.93888T>A (TTN) XP_016860309.1:p.Gly31296=
XM_017004821.1:c.93885T>A (TTN) XP_016860310.1:p.Gly31295=
XM_017004822.1:c.90927T>A (TTN) XP_016860311.1:p.Gly30309=
XM_017004823.1:c.72543T>A (TTN) XP_016860312.1:p.Gly24181=
XM_024453094.1:c.94038T>A (TTN) XP_024308862.1:p.Gly31346=
XM_024453095.1:c.94035T>A (TTN) XP_024308863.1:p.Gly31345=
XM_024453096.1:c.93468T>A (TTN) XP_024308864.1:p.Gly31156=
XM_024453097.1:c.90810T>A (TTN) XP_024308865.1:p.Gly30270=
XM_024453098.1:c.90729T>A (TTN) XP_024308866.1:p.Gly30243=
XM_024453099.1:c.72492T>A (TTN) XP_024308867.1:p.Gly24164=
XM_024453100.1:c.62346T>A (TTN) XP_024308868.1:p.Gly20782=