Canonical Allele Identifier: CA430234459

Linked Data

dbSNP Id: rs1687001298
MyVariant Identifiers: chr2:g.179392333A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178527606A>G , CM000664.2:g.178527606A>G GRCh38
NC_000002.11:g.179392333A>G , CM000664.1:g.179392333A>G GRCh37
NC_000002.10:g.179100579A>G NCBI36
NG_011618.3:g.308197T>C , LRG_391:g.308197T>C
NG_051363.1:g.9780A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.99816T>C (TTN) ENSP00000343764.6:p.Ala33272=
ENST00000342175.11:c.80901T>C (TTN) ENSP00000340554.6:p.Ala26967=
ENST00000359218.10:c.80700T>C (TTN) ENSP00000352154.5:p.Ala26900=
ENST00000342175.10:c.80901T>C (TTN) ENSP00000340554.6:p.Ala26967=
ENST00000342992.10:c.99816T>C (TTN) ENSP00000343764.6:p.Ala33272=
ENST00000359218.9:c.80700T>C (TTN) ENSP00000352154.5:p.Ala26900=
ENST00000460472.6:c.80325T>C (TTN) ENSP00000434586.1:p.Ala26775=
ENST00000589042.5:c.107520T>C (TTN) MANE Select ENSP00000467141.1:p.Ala35840=
ENST00000591111.5:c.102597T>C (TTN) ENSP00000465570.1:p.Ala34199=
ENST00000615779.4:c.102597T>C (TTN) ENSP00000483597.1:p.Ala34199=
NM_001256850.1:c.102597T>C (TTN) NP_001243779.1:p.Ala34199=
NM_001267550.2:c.107520T>C (TTN) MANE Select NP_001254479.2:p.Ala35840=
NM_003319.4:c.80325T>C (TTN) NP_003310.4:p.Ala26775=
NM_133378.4:c.99816T>C (TTN) NP_596869.4:p.Ala33272=
NM_133432.3:c.80700T>C (TTN) NP_597676.3:p.Ala26900=
NM_133437.4:c.80901T>C (TTN) NP_597681.4:p.Ala26967=
NR_038271.1:n.446+3970A>G (TTN-AS1)
NR_038272.1:n.219+3970A>G (TTN-AS1)
XM_011511729.1:c.106617T>C (TTN) XP_011510031.1:p.Ala35539=
XM_011511730.1:c.80511T>C (TTN) XP_011510032.1:p.Ala26837=
XM_011511731.1:c.80370T>C (TTN) XP_011510033.1:p.Ala26790=
XM_017004819.1:c.106413T>C (TTN) XP_016860308.1:p.Ala35471=
XM_017004820.1:c.101811T>C (TTN) XP_016860309.1:p.Ala33937=
XM_017004821.1:c.101808T>C (TTN) XP_016860310.1:p.Ala33936=
XM_017004822.1:c.98850T>C (TTN) XP_016860311.1:p.Ala32950=
XM_017004823.1:c.80466T>C (TTN) XP_016860312.1:p.Ala26822=
XM_024453094.1:c.101961T>C (TTN) XP_024308862.1:p.Ala33987=
XM_024453095.1:c.101958T>C (TTN) XP_024308863.1:p.Ala33986=
XM_024453096.1:c.101391T>C (TTN) XP_024308864.1:p.Ala33797=
XM_024453097.1:c.98733T>C (TTN) XP_024308865.1:p.Ala32911=
XM_024453098.1:c.98652T>C (TTN) XP_024308866.1:p.Ala32884=
XM_024453099.1:c.80415T>C (TTN) XP_024308867.1:p.Ala26805=
XM_024453100.1:c.70269T>C (TTN) XP_024308868.1:p.Ala23423=