Canonical Allele Identifier: CA430244791

Linked Data

MyVariant Identifiers: chr2:g.179414502A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178549775A>G , CM000664.2:g.178549775A>G GRCh38
NC_000002.11:g.179414502A>G , CM000664.1:g.179414502A>G GRCh37
NC_000002.10:g.179122748A>G NCBI36
NG_011618.3:g.286028T>C , LRG_391:g.286028T>C
NG_051363.1:g.31949A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.84243T>C (TTN) ENSP00000343764.6:p.Cys28081=
ENST00000342175.11:c.65328T>C (TTN) ENSP00000340554.6:p.Cys21776=
ENST00000359218.10:c.65127T>C (TTN) ENSP00000352154.5:p.Cys21709=
ENST00000342175.10:c.65328T>C (TTN) ENSP00000340554.6:p.Cys21776=
ENST00000342992.10:c.84243T>C (TTN) ENSP00000343764.6:p.Cys28081=
ENST00000359218.9:c.65127T>C (TTN) ENSP00000352154.5:p.Cys21709=
ENST00000460472.6:c.64752T>C (TTN) ENSP00000434586.1:p.Cys21584=
ENST00000589042.5:c.91947T>C (TTN) MANE Select ENSP00000467141.1:p.Cys30649=
ENST00000591111.5:c.87024T>C (TTN) ENSP00000465570.1:p.Cys29008=
ENST00000615779.4:c.87024T>C (TTN) ENSP00000483597.1:p.Cys29008=
NM_001256850.1:c.87024T>C (TTN) NP_001243779.1:p.Cys29008=
NM_001267550.2:c.91947T>C (TTN) MANE Select NP_001254479.2:p.Cys30649=
NM_003319.4:c.64752T>C (TTN) NP_003310.4:p.Cys21584=
NM_133378.4:c.84243T>C (TTN) NP_596869.4:p.Cys28081=
NM_133432.3:c.65127T>C (TTN) NP_597676.3:p.Cys21709=
NM_133437.4:c.65328T>C (TTN) NP_597681.4:p.Cys21776=
NR_038271.1:n.447-21525A>G (TTN-AS1)
NR_038272.1:n.2043+7414A>G (TTN-AS1)
XM_011511729.1:c.91044T>C (TTN) XP_011510031.1:p.Cys30348=
XM_011511730.1:c.64938T>C (TTN) XP_011510032.1:p.Cys21646=
XM_011511731.1:c.64797T>C (TTN) XP_011510033.1:p.Cys21599=
XM_017004819.1:c.90840T>C (TTN) XP_016860308.1:p.Cys30280=
XM_017004820.1:c.86238T>C (TTN) XP_016860309.1:p.Cys28746=
XM_017004821.1:c.86235T>C (TTN) XP_016860310.1:p.Cys28745=
XM_017004822.1:c.83277T>C (TTN) XP_016860311.1:p.Cys27759=
XM_017004823.1:c.64893T>C (TTN) XP_016860312.1:p.Cys21631=
XM_024453094.1:c.86388T>C (TTN) XP_024308862.1:p.Cys28796=
XM_024453095.1:c.86385T>C (TTN) XP_024308863.1:p.Cys28795=
XM_024453096.1:c.85818T>C (TTN) XP_024308864.1:p.Cys28606=
XM_024453097.1:c.83160T>C (TTN) XP_024308865.1:p.Cys27720=
XM_024453098.1:c.83079T>C (TTN) XP_024308866.1:p.Cys27693=
XM_024453099.1:c.64842T>C (TTN) XP_024308867.1:p.Cys21614=
XM_024453100.1:c.54696T>C (TTN) XP_024308868.1:p.Cys18232=