Canonical Allele Identifier: CA430264182

Linked Data

MyVariant Identifiers: chr2:g.179449589G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178584862G>A , CM000664.2:g.178584862G>A GRCh38
NC_000002.11:g.179449589G>A , CM000664.1:g.179449589G>A GRCh37
NC_000002.10:g.179157835G>A NCBI36
NG_011618.3:g.250941C>T , LRG_391:g.250941C>T
NG_051363.1:g.67036G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.57075C>T (TTN) ENSP00000343764.6:p.Thr19025=
ENST00000342175.11:c.38160C>T (TTN) ENSP00000340554.6:p.Thr12720=
ENST00000359218.10:c.37959C>T (TTN) ENSP00000352154.5:p.Thr12653=
ENST00000342175.10:c.38160C>T (TTN) ENSP00000340554.6:p.Thr12720=
ENST00000342992.10:c.57075C>T (TTN) ENSP00000343764.6:p.Thr19025=
ENST00000359218.9:c.37959C>T (TTN) ENSP00000352154.5:p.Thr12653=
ENST00000460472.6:c.37584C>T (TTN) ENSP00000434586.1:p.Thr12528=
ENST00000589042.5:c.64779C>T (TTN) MANE Select ENSP00000467141.1:p.Thr21593=
ENST00000591111.5:c.59856C>T (TTN) ENSP00000465570.1:p.Thr19952=
ENST00000615779.4:c.59856C>T (TTN) ENSP00000483597.1:p.Thr19952=
NM_001256850.1:c.59856C>T (TTN) NP_001243779.1:p.Thr19952=
NM_001267550.2:c.64779C>T (TTN) MANE Select NP_001254479.2:p.Thr21593=
NM_003319.4:c.37584C>T (TTN) NP_003310.4:p.Thr12528=
NM_133378.4:c.57075C>T (TTN) NP_596869.4:p.Thr19025=
NM_133432.3:c.37959C>T (TTN) NP_597676.3:p.Thr12653=
NM_133437.4:c.38160C>T (TTN) NP_597681.4:p.Thr12720=
NR_038271.1:n.597-12734G>A (TTN-AS1)
NR_038272.1:n.3057G>A (TTN-AS1)
XM_011511729.1:c.63876C>T (TTN) XP_011510031.1:p.Thr21292=
XM_011511730.1:c.37770C>T (TTN) XP_011510032.1:p.Thr12590=
XM_011511731.1:c.37629C>T (TTN) XP_011510033.1:p.Thr12543=
XM_017004819.1:c.63672C>T (TTN) XP_016860308.1:p.Thr21224=
XM_017004820.1:c.59070C>T (TTN) XP_016860309.1:p.Thr19690=
XM_017004821.1:c.59067C>T (TTN) XP_016860310.1:p.Thr19689=
XM_017004822.1:c.56109C>T (TTN) XP_016860311.1:p.Thr18703=
XM_017004823.1:c.37725C>T (TTN) XP_016860312.1:p.Thr12575=
XM_024453094.1:c.59220C>T (TTN) XP_024308862.1:p.Thr19740=
XM_024453095.1:c.59217C>T (TTN) XP_024308863.1:p.Thr19739=
XM_024453096.1:c.58650C>T (TTN) XP_024308864.1:p.Thr19550=
XM_024453097.1:c.55992C>T (TTN) XP_024308865.1:p.Thr18664=
XM_024453098.1:c.55911C>T (TTN) XP_024308866.1:p.Thr18637=
XM_024453099.1:c.37674C>T (TTN) XP_024308867.1:p.Thr12558=
XM_024453100.1:c.27528C>T (TTN) XP_024308868.1:p.Thr9176=