Canonical Allele Identifier: CA430245448

Linked Data

MyVariant Identifiers: chr2:g.179417282G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178552555G>T , CM000664.2:g.178552555G>T GRCh38
NC_000002.11:g.179417282G>T , CM000664.1:g.179417282G>T GRCh37
NC_000002.10:g.179125528G>T NCBI36
NG_011618.3:g.283248C>A , LRG_391:g.283248C>A
NG_051363.1:g.34729G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.82641C>A (TTN) ENSP00000343764.6:p.Val27547=
ENST00000342175.11:c.63726C>A (TTN) ENSP00000340554.6:p.Val21242=
ENST00000359218.10:c.63525C>A (TTN) ENSP00000352154.5:p.Val21175=
ENST00000342175.10:c.63726C>A (TTN) ENSP00000340554.6:p.Val21242=
ENST00000342992.10:c.82641C>A (TTN) ENSP00000343764.6:p.Val27547=
ENST00000359218.9:c.63525C>A (TTN) ENSP00000352154.5:p.Val21175=
ENST00000460472.6:c.63150C>A (TTN) ENSP00000434586.1:p.Val21050=
ENST00000589042.5:c.90345C>A (TTN) MANE Select ENSP00000467141.1:p.Val30115=
ENST00000591111.5:c.85422C>A (TTN) ENSP00000465570.1:p.Val28474=
ENST00000615779.4:c.85422C>A (TTN) ENSP00000483597.1:p.Val28474=
NM_001256850.1:c.85422C>A (TTN) NP_001243779.1:p.Val28474=
NM_001267550.2:c.90345C>A (TTN) MANE Select NP_001254479.2:p.Val30115=
NM_003319.4:c.63150C>A (TTN) NP_003310.4:p.Val21050=
NM_133378.4:c.82641C>A (TTN) NP_596869.4:p.Val27547=
NM_133432.3:c.63525C>A (TTN) NP_597676.3:p.Val21175=
NM_133437.4:c.63726C>A (TTN) NP_597681.4:p.Val21242=
NR_038271.1:n.447-18745G>T (TTN-AS1)
NR_038272.1:n.2043+10194G>T (TTN-AS1)
XM_011511729.1:c.89442C>A (TTN) XP_011510031.1:p.Val29814=
XM_011511730.1:c.63336C>A (TTN) XP_011510032.1:p.Val21112=
XM_011511731.1:c.63195C>A (TTN) XP_011510033.1:p.Val21065=
XM_017004819.1:c.89238C>A (TTN) XP_016860308.1:p.Val29746=
XM_017004820.1:c.84636C>A (TTN) XP_016860309.1:p.Val28212=
XM_017004821.1:c.84633C>A (TTN) XP_016860310.1:p.Val28211=
XM_017004822.1:c.81675C>A (TTN) XP_016860311.1:p.Val27225=
XM_017004823.1:c.63291C>A (TTN) XP_016860312.1:p.Val21097=
XM_024453094.1:c.84786C>A (TTN) XP_024308862.1:p.Val28262=
XM_024453095.1:c.84783C>A (TTN) XP_024308863.1:p.Val28261=
XM_024453096.1:c.84216C>A (TTN) XP_024308864.1:p.Val28072=
XM_024453097.1:c.81558C>A (TTN) XP_024308865.1:p.Val27186=
XM_024453098.1:c.81477C>A (TTN) XP_024308866.1:p.Val27159=
XM_024453099.1:c.63240C>A (TTN) XP_024308867.1:p.Val21080=
XM_024453100.1:c.53094C>A (TTN) XP_024308868.1:p.Val17698=