Canonical Allele Identifier: CA430274630

Linked Data

MyVariant Identifiers: chr2:g.179482938A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178618211A>G , CM000664.2:g.178618211A>G GRCh38
NC_000002.11:g.179482938A>G , CM000664.1:g.179482938A>G GRCh37
NC_000002.10:g.179191183A>G NCBI36
NG_011618.3:g.217592T>C , LRG_391:g.217592T>C
NG_051363.1:g.100385A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.39543T>C (TTN) ENSP00000343764.6:p.Pro13181=
ENST00000342175.11:c.20628T>C (TTN) ENSP00000340554.6:p.Pro6876=
ENST00000359218.10:c.20427T>C (TTN) ENSP00000352154.5:p.Pro6809=
ENST00000342175.10:c.20628T>C (TTN) ENSP00000340554.6:p.Pro6876=
ENST00000342992.10:c.39543T>C (TTN) ENSP00000343764.6:p.Pro13181=
ENST00000359218.9:c.20427T>C (TTN) ENSP00000352154.5:p.Pro6809=
ENST00000460472.6:c.20052T>C (TTN) ENSP00000434586.1:p.Pro6684=
ENST00000589042.5:c.47247T>C (TTN) MANE Select ENSP00000467141.1:p.Pro15749=
ENST00000591111.5:c.42324T>C (TTN) ENSP00000465570.1:p.Pro14108=
ENST00000615779.4:c.42324T>C (TTN) ENSP00000483597.1:p.Pro14108=
NM_001256850.1:c.42324T>C (TTN) NP_001243779.1:p.Pro14108=
NM_001267550.2:c.47247T>C (TTN) MANE Select NP_001254479.2:p.Pro15749=
NM_003319.4:c.20052T>C (TTN) NP_003310.4:p.Pro6684=
NM_133378.4:c.39543T>C (TTN) NP_596869.4:p.Pro13181=
NM_133432.3:c.20427T>C (TTN) NP_597676.3:p.Pro6809=
NM_133437.4:c.20628T>C (TTN) NP_597681.4:p.Pro6876=
NR_038271.1:n.1605-1542A>G (TTN-AS1)
XM_011511729.1:c.46344T>C (TTN) XP_011510031.1:p.Pro15448=
XM_011511730.1:c.20238T>C (TTN) XP_011510032.1:p.Pro6746=
XM_011511731.1:c.20097T>C (TTN) XP_011510033.1:p.Pro6699=
XM_017004819.1:c.46140T>C (TTN) XP_016860308.1:p.Pro15380=
XM_017004820.1:c.41538T>C (TTN) XP_016860309.1:p.Pro13846=
XM_017004821.1:c.41535T>C (TTN) XP_016860310.1:p.Pro13845=
XM_017004822.1:c.38577T>C (TTN) XP_016860311.1:p.Pro12859=
XM_017004823.1:c.20193T>C (TTN) XP_016860312.1:p.Pro6731=
XM_024453094.1:c.41688T>C (TTN) XP_024308862.1:p.Pro13896=
XM_024453095.1:c.41685T>C (TTN) XP_024308863.1:p.Pro13895=
XM_024453096.1:c.41118T>C (TTN) XP_024308864.1:p.Pro13706=
XM_024453097.1:c.38460T>C (TTN) XP_024308865.1:p.Pro12820=
XM_024453098.1:c.38379T>C (TTN) XP_024308866.1:p.Pro12793=
XM_024453099.1:c.20142T>C (TTN) XP_024308867.1:p.Pro6714=
XM_024453100.1:c.9996T>C (TTN) XP_024308868.1:p.Pro3332=