Canonical Allele Identifier: CA430254780

Linked Data

MyVariant Identifiers: chr2:g.179435187T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178570460T>C , CM000664.2:g.178570460T>C GRCh38
NC_000002.11:g.179435187T>C , CM000664.1:g.179435187T>C GRCh37
NC_000002.10:g.179143433T>C NCBI36
NG_011618.3:g.265343A>G , LRG_391:g.265343A>G
NG_051363.1:g.52634T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.67968A>G (TTN) ENSP00000343764.6:p.Leu22656=
ENST00000342175.11:c.49053A>G (TTN) ENSP00000340554.6:p.Leu16351=
ENST00000359218.10:c.48852A>G (TTN) ENSP00000352154.5:p.Leu16284=
ENST00000342175.10:c.49053A>G (TTN) ENSP00000340554.6:p.Leu16351=
ENST00000342992.10:c.67968A>G (TTN) ENSP00000343764.6:p.Leu22656=
ENST00000359218.9:c.48852A>G (TTN) ENSP00000352154.5:p.Leu16284=
ENST00000460472.6:c.48477A>G (TTN) ENSP00000434586.1:p.Leu16159=
ENST00000589042.5:c.75672A>G (TTN) MANE Select ENSP00000467141.1:p.Leu25224=
ENST00000591111.5:c.70749A>G (TTN) ENSP00000465570.1:p.Leu23583=
ENST00000615779.4:c.70749A>G (TTN) ENSP00000483597.1:p.Leu23583=
NM_001256850.1:c.70749A>G (TTN) NP_001243779.1:p.Leu23583=
NM_001267550.2:c.75672A>G (TTN) MANE Select NP_001254479.2:p.Leu25224=
NM_003319.4:c.48477A>G (TTN) NP_003310.4:p.Leu16159=
NM_133378.4:c.67968A>G (TTN) NP_596869.4:p.Leu22656=
NM_133432.3:c.48852A>G (TTN) NP_597676.3:p.Leu16284=
NM_133437.4:c.49053A>G (TTN) NP_597681.4:p.Leu16351=
NR_038271.1:n.447-840T>C (TTN-AS1)
NR_038272.1:n.2044-12112T>C (TTN-AS1)
XM_011511729.1:c.74769A>G (TTN) XP_011510031.1:p.Leu24923=
XM_011511730.1:c.48663A>G (TTN) XP_011510032.1:p.Leu16221=
XM_011511731.1:c.48522A>G (TTN) XP_011510033.1:p.Leu16174=
XM_017004819.1:c.74565A>G (TTN) XP_016860308.1:p.Leu24855=
XM_017004820.1:c.69963A>G (TTN) XP_016860309.1:p.Leu23321=
XM_017004821.1:c.69960A>G (TTN) XP_016860310.1:p.Leu23320=
XM_017004822.1:c.67002A>G (TTN) XP_016860311.1:p.Leu22334=
XM_017004823.1:c.48618A>G (TTN) XP_016860312.1:p.Leu16206=
XM_024453094.1:c.70113A>G (TTN) XP_024308862.1:p.Leu23371=
XM_024453095.1:c.70110A>G (TTN) XP_024308863.1:p.Leu23370=
XM_024453096.1:c.69543A>G (TTN) XP_024308864.1:p.Leu23181=
XM_024453097.1:c.66885A>G (TTN) XP_024308865.1:p.Leu22295=
XM_024453098.1:c.66804A>G (TTN) XP_024308866.1:p.Leu22268=
XM_024453099.1:c.48567A>G (TTN) XP_024308867.1:p.Leu16189=
XM_024453100.1:c.38421A>G (TTN) XP_024308868.1:p.Leu12807=