Canonical Allele Identifier: CA430245346

Linked Data

MyVariant Identifiers: chr2:g.179416559A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178551832A>T , CM000664.2:g.178551832A>T GRCh38
NC_000002.11:g.179416559A>T , CM000664.1:g.179416559A>T GRCh37
NC_000002.10:g.179124805A>T NCBI36
NG_011618.3:g.283971T>A , LRG_391:g.283971T>A
NG_051363.1:g.34006A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.83364T>A (TTN) ENSP00000343764.6:p.Val27788=
ENST00000342175.11:c.64449T>A (TTN) ENSP00000340554.6:p.Val21483=
ENST00000359218.10:c.64248T>A (TTN) ENSP00000352154.5:p.Val21416=
ENST00000342175.10:c.64449T>A (TTN) ENSP00000340554.6:p.Val21483=
ENST00000342992.10:c.83364T>A (TTN) ENSP00000343764.6:p.Val27788=
ENST00000359218.9:c.64248T>A (TTN) ENSP00000352154.5:p.Val21416=
ENST00000460472.6:c.63873T>A (TTN) ENSP00000434586.1:p.Val21291=
ENST00000589042.5:c.91068T>A (TTN) MANE Select ENSP00000467141.1:p.Val30356=
ENST00000591111.5:c.86145T>A (TTN) ENSP00000465570.1:p.Val28715=
ENST00000615779.4:c.86145T>A (TTN) ENSP00000483597.1:p.Val28715=
NM_001256850.1:c.86145T>A (TTN) NP_001243779.1:p.Val28715=
NM_001267550.2:c.91068T>A (TTN) MANE Select NP_001254479.2:p.Val30356=
NM_003319.4:c.63873T>A (TTN) NP_003310.4:p.Val21291=
NM_133378.4:c.83364T>A (TTN) NP_596869.4:p.Val27788=
NM_133432.3:c.64248T>A (TTN) NP_597676.3:p.Val21416=
NM_133437.4:c.64449T>A (TTN) NP_597681.4:p.Val21483=
NR_038271.1:n.447-19468A>T (TTN-AS1)
NR_038272.1:n.2043+9471A>T (TTN-AS1)
XM_011511729.1:c.90165T>A (TTN) XP_011510031.1:p.Val30055=
XM_011511730.1:c.64059T>A (TTN) XP_011510032.1:p.Val21353=
XM_011511731.1:c.63918T>A (TTN) XP_011510033.1:p.Val21306=
XM_017004819.1:c.89961T>A (TTN) XP_016860308.1:p.Val29987=
XM_017004820.1:c.85359T>A (TTN) XP_016860309.1:p.Val28453=
XM_017004821.1:c.85356T>A (TTN) XP_016860310.1:p.Val28452=
XM_017004822.1:c.82398T>A (TTN) XP_016860311.1:p.Val27466=
XM_017004823.1:c.64014T>A (TTN) XP_016860312.1:p.Val21338=
XM_024453094.1:c.85509T>A (TTN) XP_024308862.1:p.Val28503=
XM_024453095.1:c.85506T>A (TTN) XP_024308863.1:p.Val28502=
XM_024453096.1:c.84939T>A (TTN) XP_024308864.1:p.Val28313=
XM_024453097.1:c.82281T>A (TTN) XP_024308865.1:p.Val27427=
XM_024453098.1:c.82200T>A (TTN) XP_024308866.1:p.Val27400=
XM_024453099.1:c.63963T>A (TTN) XP_024308867.1:p.Val21321=
XM_024453100.1:c.53817T>A (TTN) XP_024308868.1:p.Val17939=