Canonical Allele Identifier: CA430241324

Linked Data

MyVariant Identifiers: chr2:g.179408022T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543295T>C , CM000664.2:g.178543295T>C GRCh38
NC_000002.11:g.179408022T>C , CM000664.1:g.179408022T>C GRCh37
NC_000002.10:g.179116268T>C NCBI36
NG_011618.3:g.292508A>G , LRG_391:g.292508A>G
NG_051363.1:g.25469T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88974A>G (TTN) ENSP00000343764.6:p.Pro29658=
ENST00000342175.11:c.70059A>G (TTN) ENSP00000340554.6:p.Pro23353=
ENST00000359218.10:c.69858A>G (TTN) ENSP00000352154.5:p.Pro23286=
ENST00000342175.10:c.70059A>G (TTN) ENSP00000340554.6:p.Pro23353=
ENST00000342992.10:c.88974A>G (TTN) ENSP00000343764.6:p.Pro29658=
ENST00000359218.9:c.69858A>G (TTN) ENSP00000352154.5:p.Pro23286=
ENST00000460472.6:c.69483A>G (TTN) ENSP00000434586.1:p.Pro23161=
ENST00000589042.5:c.96678A>G (TTN) MANE Select ENSP00000467141.1:p.Pro32226=
ENST00000591111.5:c.91755A>G (TTN) ENSP00000465570.1:p.Pro30585=
ENST00000615779.4:c.91755A>G (TTN) ENSP00000483597.1:p.Pro30585=
NM_001256850.1:c.91755A>G (TTN) NP_001243779.1:p.Pro30585=
NM_001267550.2:c.96678A>G (TTN) MANE Select NP_001254479.2:p.Pro32226=
NM_003319.4:c.69483A>G (TTN) NP_003310.4:p.Pro23161=
NM_133378.4:c.88974A>G (TTN) NP_596869.4:p.Pro29658=
NM_133432.3:c.69858A>G (TTN) NP_597676.3:p.Pro23286=
NM_133437.4:c.70059A>G (TTN) NP_597681.4:p.Pro23353=
NR_038271.1:n.446+19659T>C (TTN-AS1)
NR_038272.1:n.2043+934T>C (TTN-AS1)
XM_011511729.1:c.95775A>G (TTN) XP_011510031.1:p.Pro31925=
XM_011511730.1:c.69669A>G (TTN) XP_011510032.1:p.Pro23223=
XM_011511731.1:c.69528A>G (TTN) XP_011510033.1:p.Pro23176=
XM_017004819.1:c.95571A>G (TTN) XP_016860308.1:p.Pro31857=
XM_017004820.1:c.90969A>G (TTN) XP_016860309.1:p.Pro30323=
XM_017004821.1:c.90966A>G (TTN) XP_016860310.1:p.Pro30322=
XM_017004822.1:c.88008A>G (TTN) XP_016860311.1:p.Pro29336=
XM_017004823.1:c.69624A>G (TTN) XP_016860312.1:p.Pro23208=
XM_024453094.1:c.91119A>G (TTN) XP_024308862.1:p.Pro30373=
XM_024453095.1:c.91116A>G (TTN) XP_024308863.1:p.Pro30372=
XM_024453096.1:c.90549A>G (TTN) XP_024308864.1:p.Pro30183=
XM_024453097.1:c.87891A>G (TTN) XP_024308865.1:p.Pro29297=
XM_024453098.1:c.87810A>G (TTN) XP_024308866.1:p.Pro29270=
XM_024453099.1:c.69573A>G (TTN) XP_024308867.1:p.Pro23191=
XM_024453100.1:c.59427A>G (TTN) XP_024308868.1:p.Pro19809=