Canonical Allele Identifier: CA430241862

Linked Data

MyVariant Identifiers: chr2:g.179409106C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544379C>T , CM000664.2:g.178544379C>T GRCh38
NC_000002.11:g.179409106C>T , CM000664.1:g.179409106C>T GRCh37
NC_000002.10:g.179117352C>T NCBI36
NG_011618.3:g.291424G>A , LRG_391:g.291424G>A
NG_051363.1:g.26553C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88146G>A (TTN) ENSP00000343764.6:p.Glu29382=
ENST00000342175.11:c.69231G>A (TTN) ENSP00000340554.6:p.Glu23077=
ENST00000359218.10:c.69030G>A (TTN) ENSP00000352154.5:p.Glu23010=
ENST00000342175.10:c.69231G>A (TTN) ENSP00000340554.6:p.Glu23077=
ENST00000342992.10:c.88146G>A (TTN) ENSP00000343764.6:p.Glu29382=
ENST00000359218.9:c.69030G>A (TTN) ENSP00000352154.5:p.Glu23010=
ENST00000460472.6:c.68655G>A (TTN) ENSP00000434586.1:p.Glu22885=
ENST00000589042.5:c.95850G>A (TTN) MANE Select ENSP00000467141.1:p.Glu31950=
ENST00000591111.5:c.90927G>A (TTN) ENSP00000465570.1:p.Glu30309=
ENST00000615779.4:c.90927G>A (TTN) ENSP00000483597.1:p.Glu30309=
NM_001256850.1:c.90927G>A (TTN) NP_001243779.1:p.Glu30309=
NM_001267550.2:c.95850G>A (TTN) MANE Select NP_001254479.2:p.Glu31950=
NM_003319.4:c.68655G>A (TTN) NP_003310.4:p.Glu22885=
NM_133378.4:c.88146G>A (TTN) NP_596869.4:p.Glu29382=
NM_133432.3:c.69030G>A (TTN) NP_597676.3:p.Glu23010=
NM_133437.4:c.69231G>A (TTN) NP_597681.4:p.Glu23077=
NR_038271.1:n.446+20743C>T (TTN-AS1)
NR_038272.1:n.2043+2018C>T (TTN-AS1)
XM_011511729.1:c.94947G>A (TTN) XP_011510031.1:p.Glu31649=
XM_011511730.1:c.68841G>A (TTN) XP_011510032.1:p.Glu22947=
XM_011511731.1:c.68700G>A (TTN) XP_011510033.1:p.Glu22900=
XM_017004819.1:c.94743G>A (TTN) XP_016860308.1:p.Glu31581=
XM_017004820.1:c.90141G>A (TTN) XP_016860309.1:p.Glu30047=
XM_017004821.1:c.90138G>A (TTN) XP_016860310.1:p.Glu30046=
XM_017004822.1:c.87180G>A (TTN) XP_016860311.1:p.Glu29060=
XM_017004823.1:c.68796G>A (TTN) XP_016860312.1:p.Glu22932=
XM_024453094.1:c.90291G>A (TTN) XP_024308862.1:p.Glu30097=
XM_024453095.1:c.90288G>A (TTN) XP_024308863.1:p.Glu30096=
XM_024453096.1:c.89721G>A (TTN) XP_024308864.1:p.Glu29907=
XM_024453097.1:c.87063G>A (TTN) XP_024308865.1:p.Glu29021=
XM_024453098.1:c.86982G>A (TTN) XP_024308866.1:p.Glu28994=
XM_024453099.1:c.68745G>A (TTN) XP_024308867.1:p.Glu22915=
XM_024453100.1:c.58599G>A (TTN) XP_024308868.1:p.Glu19533=