Canonical Allele Identifier: CA430257426

Linked Data

MyVariant Identifiers: chr2:g.179438595T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178573868T>G , CM000664.2:g.178573868T>G GRCh38
NC_000002.11:g.179438595T>G , CM000664.1:g.179438595T>G GRCh37
NC_000002.10:g.179146841T>G NCBI36
NG_011618.3:g.261935A>C , LRG_391:g.261935A>C
NG_051363.1:g.56042T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.64560A>C (TTN) ENSP00000343764.6:p.Val21520=
ENST00000342175.11:c.45645A>C (TTN) ENSP00000340554.6:p.Val15215=
ENST00000359218.10:c.45444A>C (TTN) ENSP00000352154.5:p.Val15148=
ENST00000342175.10:c.45645A>C (TTN) ENSP00000340554.6:p.Val15215=
ENST00000342992.10:c.64560A>C (TTN) ENSP00000343764.6:p.Val21520=
ENST00000359218.9:c.45444A>C (TTN) ENSP00000352154.5:p.Val15148=
ENST00000460472.6:c.45069A>C (TTN) ENSP00000434586.1:p.Val15023=
ENST00000589042.5:c.72264A>C (TTN) MANE Select ENSP00000467141.1:p.Val24088=
ENST00000591111.5:c.67341A>C (TTN) ENSP00000465570.1:p.Val22447=
ENST00000615779.4:c.67341A>C (TTN) ENSP00000483597.1:p.Val22447=
NM_001256850.1:c.67341A>C (TTN) NP_001243779.1:p.Val22447=
NM_001267550.2:c.72264A>C (TTN) MANE Select NP_001254479.2:p.Val24088=
NM_003319.4:c.45069A>C (TTN) NP_003310.4:p.Val15023=
NM_133378.4:c.64560A>C (TTN) NP_596869.4:p.Val21520=
NM_133432.3:c.45444A>C (TTN) NP_597676.3:p.Val15148=
NM_133437.4:c.45645A>C (TTN) NP_597681.4:p.Val15215=
NR_038271.1:n.596+2419T>G (TTN-AS1)
NR_038272.1:n.2044-8704T>G (TTN-AS1)
XM_011511729.1:c.71361A>C (TTN) XP_011510031.1:p.Val23787=
XM_011511730.1:c.45255A>C (TTN) XP_011510032.1:p.Val15085=
XM_011511731.1:c.45114A>C (TTN) XP_011510033.1:p.Val15038=
XM_017004819.1:c.71157A>C (TTN) XP_016860308.1:p.Val23719=
XM_017004820.1:c.66555A>C (TTN) XP_016860309.1:p.Val22185=
XM_017004821.1:c.66552A>C (TTN) XP_016860310.1:p.Val22184=
XM_017004822.1:c.63594A>C (TTN) XP_016860311.1:p.Val21198=
XM_017004823.1:c.45210A>C (TTN) XP_016860312.1:p.Val15070=
XM_024453094.1:c.66705A>C (TTN) XP_024308862.1:p.Val22235=
XM_024453095.1:c.66702A>C (TTN) XP_024308863.1:p.Val22234=
XM_024453096.1:c.66135A>C (TTN) XP_024308864.1:p.Val22045=
XM_024453097.1:c.63477A>C (TTN) XP_024308865.1:p.Val21159=
XM_024453098.1:c.63396A>C (TTN) XP_024308866.1:p.Val21132=
XM_024453099.1:c.45159A>C (TTN) XP_024308867.1:p.Val15053=
XM_024453100.1:c.35013A>C (TTN) XP_024308868.1:p.Val11671=