Canonical Allele Identifier: CA430108400

Linked Data

MyVariant Identifiers: chr2:g.179483507T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178618780T>G , CM000664.2:g.178618780T>G GRCh38
NC_000002.11:g.179483507T>G , CM000664.1:g.179483507T>G GRCh37
NC_000002.10:g.179191752T>G NCBI36
NG_011618.3:g.217023A>C , LRG_391:g.217023A>C
NG_051363.1:g.100954T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.39066A>C (TTN) ENSP00000343764.6:p.Pro13022=
ENST00000342175.11:c.20151A>C (TTN) ENSP00000340554.6:p.Pro6717=
ENST00000359218.10:c.19950A>C (TTN) ENSP00000352154.5:p.Pro6650=
ENST00000342175.10:c.20151A>C (TTN) ENSP00000340554.6:p.Pro6717=
ENST00000342992.10:c.39066A>C (TTN) ENSP00000343764.6:p.Pro13022=
ENST00000359218.9:c.19950A>C (TTN) ENSP00000352154.5:p.Pro6650=
ENST00000460472.6:c.19575A>C (TTN) ENSP00000434586.1:p.Pro6525=
ENST00000589042.5:c.46770A>C (TTN) MANE Select ENSP00000467141.1:p.Pro15590=
ENST00000591111.5:c.41847A>C (TTN) ENSP00000465570.1:p.Pro13949=
ENST00000615779.4:c.41847A>C (TTN) ENSP00000483597.1:p.Pro13949=
NM_001256850.1:c.41847A>C (TTN) NP_001243779.1:p.Pro13949=
NM_001267550.2:c.46770A>C (TTN) MANE Select NP_001254479.2:p.Pro15590=
NM_003319.4:c.19575A>C (TTN) NP_003310.4:p.Pro6525=
NM_133378.4:c.39066A>C (TTN) NP_596869.4:p.Pro13022=
NM_133432.3:c.19950A>C (TTN) NP_597676.3:p.Pro6650=
NM_133437.4:c.20151A>C (TTN) NP_597681.4:p.Pro6717=
NR_038271.1:n.1605-973T>G (TTN-AS1)
XM_011511729.1:c.45867A>C (TTN) XP_011510031.1:p.Pro15289=
XM_011511730.1:c.19761A>C (TTN) XP_011510032.1:p.Pro6587=
XM_011511731.1:c.19620A>C (TTN) XP_011510033.1:p.Pro6540=
XM_017004819.1:c.45663A>C (TTN) XP_016860308.1:p.Pro15221=
XM_017004820.1:c.41061A>C (TTN) XP_016860309.1:p.Pro13687=
XM_017004821.1:c.41058A>C (TTN) XP_016860310.1:p.Pro13686=
XM_017004822.1:c.38100A>C (TTN) XP_016860311.1:p.Pro12700=
XM_017004823.1:c.19716A>C (TTN) XP_016860312.1:p.Pro6572=
XM_024453094.1:c.41211A>C (TTN) XP_024308862.1:p.Pro13737=
XM_024453095.1:c.41208A>C (TTN) XP_024308863.1:p.Pro13736=
XM_024453096.1:c.40641A>C (TTN) XP_024308864.1:p.Pro13547=
XM_024453097.1:c.37983A>C (TTN) XP_024308865.1:p.Pro12661=
XM_024453098.1:c.37902A>C (TTN) XP_024308866.1:p.Pro12634=
XM_024453099.1:c.19665A>C (TTN) XP_024308867.1:p.Pro6555=
XM_024453100.1:c.9519A>C (TTN) XP_024308868.1:p.Pro3173=