Canonical Allele Identifier: CA430257123

Linked Data

MyVariant Identifiers: chr2:g.179438766C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178574039C>A , CM000664.2:g.178574039C>A GRCh38
NC_000002.11:g.179438766C>A , CM000664.1:g.179438766C>A GRCh37
NC_000002.10:g.179147012C>A NCBI36
NG_011618.3:g.261764G>T , LRG_391:g.261764G>T
NG_051363.1:g.56213C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.64389G>T (TTN) ENSP00000343764.6:p.Val21463=
ENST00000342175.11:c.45474G>T (TTN) ENSP00000340554.6:p.Val15158=
ENST00000359218.10:c.45273G>T (TTN) ENSP00000352154.5:p.Val15091=
ENST00000342175.10:c.45474G>T (TTN) ENSP00000340554.6:p.Val15158=
ENST00000342992.10:c.64389G>T (TTN) ENSP00000343764.6:p.Val21463=
ENST00000359218.9:c.45273G>T (TTN) ENSP00000352154.5:p.Val15091=
ENST00000460472.6:c.44898G>T (TTN) ENSP00000434586.1:p.Val14966=
ENST00000589042.5:c.72093G>T (TTN) MANE Select ENSP00000467141.1:p.Val24031=
ENST00000591111.5:c.67170G>T (TTN) ENSP00000465570.1:p.Val22390=
ENST00000615779.4:c.67170G>T (TTN) ENSP00000483597.1:p.Val22390=
NM_001256850.1:c.67170G>T (TTN) NP_001243779.1:p.Val22390=
NM_001267550.2:c.72093G>T (TTN) MANE Select NP_001254479.2:p.Val24031=
NM_003319.4:c.44898G>T (TTN) NP_003310.4:p.Val14966=
NM_133378.4:c.64389G>T (TTN) NP_596869.4:p.Val21463=
NM_133432.3:c.45273G>T (TTN) NP_597676.3:p.Val15091=
NM_133437.4:c.45474G>T (TTN) NP_597681.4:p.Val15158=
NR_038271.1:n.596+2590C>A (TTN-AS1)
NR_038272.1:n.2044-8533C>A (TTN-AS1)
XM_011511729.1:c.71190G>T (TTN) XP_011510031.1:p.Val23730=
XM_011511730.1:c.45084G>T (TTN) XP_011510032.1:p.Val15028=
XM_011511731.1:c.44943G>T (TTN) XP_011510033.1:p.Val14981=
XM_017004819.1:c.70986G>T (TTN) XP_016860308.1:p.Val23662=
XM_017004820.1:c.66384G>T (TTN) XP_016860309.1:p.Val22128=
XM_017004821.1:c.66381G>T (TTN) XP_016860310.1:p.Val22127=
XM_017004822.1:c.63423G>T (TTN) XP_016860311.1:p.Val21141=
XM_017004823.1:c.45039G>T (TTN) XP_016860312.1:p.Val15013=
XM_024453094.1:c.66534G>T (TTN) XP_024308862.1:p.Val22178=
XM_024453095.1:c.66531G>T (TTN) XP_024308863.1:p.Val22177=
XM_024453096.1:c.65964G>T (TTN) XP_024308864.1:p.Val21988=
XM_024453097.1:c.63306G>T (TTN) XP_024308865.1:p.Val21102=
XM_024453098.1:c.63225G>T (TTN) XP_024308866.1:p.Val21075=
XM_024453099.1:c.44988G>T (TTN) XP_024308867.1:p.Val14996=
XM_024453100.1:c.34842G>T (TTN) XP_024308868.1:p.Val11614=