Canonical Allele Identifier: CA430235271

Linked Data

MyVariant Identifiers: chr2:g.179395118A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530391A>G , CM000664.2:g.178530391A>G GRCh38
NC_000002.11:g.179395118A>G , CM000664.1:g.179395118A>G GRCh37
NC_000002.10:g.179103364A>G NCBI36
NG_011618.3:g.305412T>C , LRG_391:g.305412T>C
NG_051363.1:g.12565A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98520T>C (TTN) ENSP00000343764.6:p.Thr32840=
ENST00000342175.11:c.79605T>C (TTN) ENSP00000340554.6:p.Thr26535=
ENST00000359218.10:c.79404T>C (TTN) ENSP00000352154.5:p.Thr26468=
ENST00000342175.10:c.79605T>C (TTN) ENSP00000340554.6:p.Thr26535=
ENST00000342992.10:c.98520T>C (TTN) ENSP00000343764.6:p.Thr32840=
ENST00000359218.9:c.79404T>C (TTN) ENSP00000352154.5:p.Thr26468=
ENST00000460472.6:c.79029T>C (TTN) ENSP00000434586.1:p.Thr26343=
ENST00000589042.5:c.106224T>C (TTN) MANE Select ENSP00000467141.1:p.Thr35408=
ENST00000591111.5:c.101301T>C (TTN) ENSP00000465570.1:p.Thr33767=
ENST00000615779.4:c.101301T>C (TTN) ENSP00000483597.1:p.Thr33767=
NM_001256850.1:c.101301T>C (TTN) NP_001243779.1:p.Thr33767=
NM_001267550.2:c.106224T>C (TTN) MANE Select NP_001254479.2:p.Thr35408=
NM_003319.4:c.79029T>C (TTN) NP_003310.4:p.Thr26343=
NM_133378.4:c.98520T>C (TTN) NP_596869.4:p.Thr32840=
NM_133432.3:c.79404T>C (TTN) NP_597676.3:p.Thr26468=
NM_133437.4:c.79605T>C (TTN) NP_597681.4:p.Thr26535=
NR_038271.1:n.446+6755A>G (TTN-AS1)
NR_038272.1:n.220-5341A>G (TTN-AS1)
XM_011511729.1:c.105321T>C (TTN) XP_011510031.1:p.Thr35107=
XM_011511730.1:c.79215T>C (TTN) XP_011510032.1:p.Thr26405=
XM_011511731.1:c.79074T>C (TTN) XP_011510033.1:p.Thr26358=
XM_017004819.1:c.105117T>C (TTN) XP_016860308.1:p.Thr35039=
XM_017004820.1:c.100515T>C (TTN) XP_016860309.1:p.Thr33505=
XM_017004821.1:c.100512T>C (TTN) XP_016860310.1:p.Thr33504=
XM_017004822.1:c.97554T>C (TTN) XP_016860311.1:p.Thr32518=
XM_017004823.1:c.79170T>C (TTN) XP_016860312.1:p.Thr26390=
XM_024453094.1:c.100665T>C (TTN) XP_024308862.1:p.Thr33555=
XM_024453095.1:c.100662T>C (TTN) XP_024308863.1:p.Thr33554=
XM_024453096.1:c.100095T>C (TTN) XP_024308864.1:p.Thr33365=
XM_024453097.1:c.97437T>C (TTN) XP_024308865.1:p.Thr32479=
XM_024453098.1:c.97356T>C (TTN) XP_024308866.1:p.Thr32452=
XM_024453099.1:c.79119T>C (TTN) XP_024308867.1:p.Thr26373=
XM_024453100.1:c.68973T>C (TTN) XP_024308868.1:p.Thr22991=