Canonical Allele Identifier: CA430252714

Linked Data

MyVariant Identifiers: chr2:g.179432115C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178567388C>T , CM000664.2:g.178567388C>T GRCh38
NC_000002.11:g.179432115C>T , CM000664.1:g.179432115C>T GRCh37
NC_000002.10:g.179140361C>T NCBI36
NG_011618.3:g.268415G>A , LRG_391:g.268415G>A
NG_051363.1:g.49562C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.71040G>A (TTN) ENSP00000343764.6:p.Lys23680=
ENST00000342175.11:c.52125G>A (TTN) ENSP00000340554.6:p.Lys17375=
ENST00000359218.10:c.51924G>A (TTN) ENSP00000352154.5:p.Lys17308=
ENST00000342175.10:c.52125G>A (TTN) ENSP00000340554.6:p.Lys17375=
ENST00000342992.10:c.71040G>A (TTN) ENSP00000343764.6:p.Lys23680=
ENST00000359218.9:c.51924G>A (TTN) ENSP00000352154.5:p.Lys17308=
ENST00000460472.6:c.51549G>A (TTN) ENSP00000434586.1:p.Lys17183=
ENST00000589042.5:c.78744G>A (TTN) MANE Select ENSP00000467141.1:p.Lys26248=
ENST00000591111.5:c.73821G>A (TTN) ENSP00000465570.1:p.Lys24607=
ENST00000615779.4:c.73821G>A (TTN) ENSP00000483597.1:p.Lys24607=
NM_001256850.1:c.73821G>A (TTN) NP_001243779.1:p.Lys24607=
NM_001267550.2:c.78744G>A (TTN) MANE Select NP_001254479.2:p.Lys26248=
NM_003319.4:c.51549G>A (TTN) NP_003310.4:p.Lys17183=
NM_133378.4:c.71040G>A (TTN) NP_596869.4:p.Lys23680=
NM_133432.3:c.51924G>A (TTN) NP_597676.3:p.Lys17308=
NM_133437.4:c.52125G>A (TTN) NP_597681.4:p.Lys17375=
NR_038271.1:n.447-3912C>T (TTN-AS1)
NR_038272.1:n.2044-15184C>T (TTN-AS1)
XM_011511729.1:c.77841G>A (TTN) XP_011510031.1:p.Lys25947=
XM_011511730.1:c.51735G>A (TTN) XP_011510032.1:p.Lys17245=
XM_011511731.1:c.51594G>A (TTN) XP_011510033.1:p.Lys17198=
XM_017004819.1:c.77637G>A (TTN) XP_016860308.1:p.Lys25879=
XM_017004820.1:c.73035G>A (TTN) XP_016860309.1:p.Lys24345=
XM_017004821.1:c.73032G>A (TTN) XP_016860310.1:p.Lys24344=
XM_017004822.1:c.70074G>A (TTN) XP_016860311.1:p.Lys23358=
XM_017004823.1:c.51690G>A (TTN) XP_016860312.1:p.Lys17230=
XM_024453094.1:c.73185G>A (TTN) XP_024308862.1:p.Lys24395=
XM_024453095.1:c.73182G>A (TTN) XP_024308863.1:p.Lys24394=
XM_024453096.1:c.72615G>A (TTN) XP_024308864.1:p.Lys24205=
XM_024453097.1:c.69957G>A (TTN) XP_024308865.1:p.Lys23319=
XM_024453098.1:c.69876G>A (TTN) XP_024308866.1:p.Lys23292=
XM_024453099.1:c.51639G>A (TTN) XP_024308867.1:p.Lys17213=
XM_024453100.1:c.41493G>A (TTN) XP_024308868.1:p.Lys13831=