Canonical Allele Identifier: CA430094116

Linked Data

MyVariant Identifiers: chr2:g.179394835T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530108T>G , CM000664.2:g.178530108T>G GRCh38
NC_000002.11:g.179394835T>G , CM000664.1:g.179394835T>G GRCh37
NC_000002.10:g.179103081T>G NCBI36
NG_011618.3:g.305695A>C , LRG_391:g.305695A>C
NG_051363.1:g.12282T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98679A>C (TTN) ENSP00000343764.6:p.Thr32893=
ENST00000342175.11:c.79764A>C (TTN) ENSP00000340554.6:p.Thr26588=
ENST00000359218.10:c.79563A>C (TTN) ENSP00000352154.5:p.Thr26521=
ENST00000342175.10:c.79764A>C (TTN) ENSP00000340554.6:p.Thr26588=
ENST00000342992.10:c.98679A>C (TTN) ENSP00000343764.6:p.Thr32893=
ENST00000359218.9:c.79563A>C (TTN) ENSP00000352154.5:p.Thr26521=
ENST00000460472.6:c.79188A>C (TTN) ENSP00000434586.1:p.Thr26396=
ENST00000589042.5:c.106383A>C (TTN) MANE Select ENSP00000467141.1:p.Thr35461=
ENST00000591111.5:c.101460A>C (TTN) ENSP00000465570.1:p.Thr33820=
ENST00000615779.4:c.101460A>C (TTN) ENSP00000483597.1:p.Thr33820=
NM_001256850.1:c.101460A>C (TTN) NP_001243779.1:p.Thr33820=
NM_001267550.2:c.106383A>C (TTN) MANE Select NP_001254479.2:p.Thr35461=
NM_003319.4:c.79188A>C (TTN) NP_003310.4:p.Thr26396=
NM_133378.4:c.98679A>C (TTN) NP_596869.4:p.Thr32893=
NM_133432.3:c.79563A>C (TTN) NP_597676.3:p.Thr26521=
NM_133437.4:c.79764A>C (TTN) NP_597681.4:p.Thr26588=
NR_038271.1:n.446+6472T>G (TTN-AS1)
NR_038272.1:n.220-5624T>G (TTN-AS1)
XM_011511729.1:c.105480A>C (TTN) XP_011510031.1:p.Thr35160=
XM_011511730.1:c.79374A>C (TTN) XP_011510032.1:p.Thr26458=
XM_011511731.1:c.79233A>C (TTN) XP_011510033.1:p.Thr26411=
XM_017004819.1:c.105276A>C (TTN) XP_016860308.1:p.Thr35092=
XM_017004820.1:c.100674A>C (TTN) XP_016860309.1:p.Thr33558=
XM_017004821.1:c.100671A>C (TTN) XP_016860310.1:p.Thr33557=
XM_017004822.1:c.97713A>C (TTN) XP_016860311.1:p.Thr32571=
XM_017004823.1:c.79329A>C (TTN) XP_016860312.1:p.Thr26443=
XM_024453094.1:c.100824A>C (TTN) XP_024308862.1:p.Thr33608=
XM_024453095.1:c.100821A>C (TTN) XP_024308863.1:p.Thr33607=
XM_024453096.1:c.100254A>C (TTN) XP_024308864.1:p.Thr33418=
XM_024453097.1:c.97596A>C (TTN) XP_024308865.1:p.Thr32532=
XM_024453098.1:c.97515A>C (TTN) XP_024308866.1:p.Thr32505=
XM_024453099.1:c.79278A>C (TTN) XP_024308867.1:p.Thr26426=
XM_024453100.1:c.69132A>C (TTN) XP_024308868.1:p.Thr23044=