Canonical Allele Identifier: CA430264102

Linked Data

MyVariant Identifiers: chr2:g.179449421T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178584694T>C , CM000664.2:g.178584694T>C GRCh38
NC_000002.11:g.179449421T>C , CM000664.1:g.179449421T>C GRCh37
NC_000002.10:g.179157667T>C NCBI36
NG_011618.3:g.251109A>G , LRG_391:g.251109A>G
NG_051363.1:g.66868T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.57243A>G (TTN) ENSP00000343764.6:p.Pro19081=
ENST00000342175.11:c.38328A>G (TTN) ENSP00000340554.6:p.Pro12776=
ENST00000359218.10:c.38127A>G (TTN) ENSP00000352154.5:p.Pro12709=
ENST00000342175.10:c.38328A>G (TTN) ENSP00000340554.6:p.Pro12776=
ENST00000342992.10:c.57243A>G (TTN) ENSP00000343764.6:p.Pro19081=
ENST00000359218.9:c.38127A>G (TTN) ENSP00000352154.5:p.Pro12709=
ENST00000460472.6:c.37752A>G (TTN) ENSP00000434586.1:p.Pro12584=
ENST00000589042.5:c.64947A>G (TTN) MANE Select ENSP00000467141.1:p.Pro21649=
ENST00000591111.5:c.60024A>G (TTN) ENSP00000465570.1:p.Pro20008=
ENST00000615779.4:c.60024A>G (TTN) ENSP00000483597.1:p.Pro20008=
NM_001256850.1:c.60024A>G (TTN) NP_001243779.1:p.Pro20008=
NM_001267550.2:c.64947A>G (TTN) MANE Select NP_001254479.2:p.Pro21649=
NM_003319.4:c.37752A>G (TTN) NP_003310.4:p.Pro12584=
NM_133378.4:c.57243A>G (TTN) NP_596869.4:p.Pro19081=
NM_133432.3:c.38127A>G (TTN) NP_597676.3:p.Pro12709=
NM_133437.4:c.38328A>G (TTN) NP_597681.4:p.Pro12776=
NR_038271.1:n.597-12902T>C (TTN-AS1)
NR_038272.1:n.2889T>C (TTN-AS1)
XM_011511729.1:c.64044A>G (TTN) XP_011510031.1:p.Pro21348=
XM_011511730.1:c.37938A>G (TTN) XP_011510032.1:p.Pro12646=
XM_011511731.1:c.37797A>G (TTN) XP_011510033.1:p.Pro12599=
XM_017004819.1:c.63840A>G (TTN) XP_016860308.1:p.Pro21280=
XM_017004820.1:c.59238A>G (TTN) XP_016860309.1:p.Pro19746=
XM_017004821.1:c.59235A>G (TTN) XP_016860310.1:p.Pro19745=
XM_017004822.1:c.56277A>G (TTN) XP_016860311.1:p.Pro18759=
XM_017004823.1:c.37893A>G (TTN) XP_016860312.1:p.Pro12631=
XM_024453094.1:c.59388A>G (TTN) XP_024308862.1:p.Pro19796=
XM_024453095.1:c.59385A>G (TTN) XP_024308863.1:p.Pro19795=
XM_024453096.1:c.58818A>G (TTN) XP_024308864.1:p.Pro19606=
XM_024453097.1:c.56160A>G (TTN) XP_024308865.1:p.Pro18720=
XM_024453098.1:c.56079A>G (TTN) XP_024308866.1:p.Pro18693=
XM_024453099.1:c.37842A>G (TTN) XP_024308867.1:p.Pro12614=
XM_024453100.1:c.27696A>G (TTN) XP_024308868.1:p.Pro9232=