Canonical Allele Identifier: CA430239121

Linked Data

dbSNP Id: rs1692239803
MyVariant Identifiers: chr2:g.179402427A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178537700A>G , CM000664.2:g.178537700A>G GRCh38
NC_000002.11:g.179402427A>G , CM000664.1:g.179402427A>G GRCh37
NC_000002.10:g.179110673A>G NCBI36
NG_011618.3:g.298103T>C , LRG_391:g.298103T>C
NG_051363.1:g.19874A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.91803T>C (TTN) ENSP00000343764.6:p.Gly30601=
ENST00000342175.11:c.72888T>C (TTN) ENSP00000340554.6:p.Gly24296=
ENST00000359218.10:c.72687T>C (TTN) ENSP00000352154.5:p.Gly24229=
ENST00000342175.10:c.72888T>C (TTN) ENSP00000340554.6:p.Gly24296=
ENST00000342992.10:c.91803T>C (TTN) ENSP00000343764.6:p.Gly30601=
ENST00000359218.9:c.72687T>C (TTN) ENSP00000352154.5:p.Gly24229=
ENST00000460472.6:c.72312T>C (TTN) ENSP00000434586.1:p.Gly24104=
ENST00000589042.5:c.99507T>C (TTN) MANE Select ENSP00000467141.1:p.Gly33169=
ENST00000591111.5:c.94584T>C (TTN) ENSP00000465570.1:p.Gly31528=
ENST00000615779.4:c.94584T>C (TTN) ENSP00000483597.1:p.Gly31528=
NM_001256850.1:c.94584T>C (TTN) NP_001243779.1:p.Gly31528=
NM_001267550.2:c.99507T>C (TTN) MANE Select NP_001254479.2:p.Gly33169=
NM_003319.4:c.72312T>C (TTN) NP_003310.4:p.Gly24104=
NM_133378.4:c.91803T>C (TTN) NP_596869.4:p.Gly30601=
NM_133432.3:c.72687T>C (TTN) NP_597676.3:p.Gly24229=
NM_133437.4:c.72888T>C (TTN) NP_597681.4:p.Gly24296=
NR_038271.1:n.446+14064A>G (TTN-AS1)
NR_038272.1:n.647+9A>G (TTN-AS1)
XM_011511729.1:c.98604T>C (TTN) XP_011510031.1:p.Gly32868=
XM_011511730.1:c.72498T>C (TTN) XP_011510032.1:p.Gly24166=
XM_011511731.1:c.72357T>C (TTN) XP_011510033.1:p.Gly24119=
XM_017004819.1:c.98400T>C (TTN) XP_016860308.1:p.Gly32800=
XM_017004820.1:c.93798T>C (TTN) XP_016860309.1:p.Gly31266=
XM_017004821.1:c.93795T>C (TTN) XP_016860310.1:p.Gly31265=
XM_017004822.1:c.90837T>C (TTN) XP_016860311.1:p.Gly30279=
XM_017004823.1:c.72453T>C (TTN) XP_016860312.1:p.Gly24151=
XM_024453094.1:c.93948T>C (TTN) XP_024308862.1:p.Gly31316=
XM_024453095.1:c.93945T>C (TTN) XP_024308863.1:p.Gly31315=
XM_024453096.1:c.93378T>C (TTN) XP_024308864.1:p.Gly31126=
XM_024453097.1:c.90720T>C (TTN) XP_024308865.1:p.Gly30240=
XM_024453098.1:c.90639T>C (TTN) XP_024308866.1:p.Gly30213=
XM_024453099.1:c.72402T>C (TTN) XP_024308867.1:p.Gly24134=
XM_024453100.1:c.62256T>C (TTN) XP_024308868.1:p.Gly20752=