Canonical Allele Identifier: CA430267336

Linked Data

MyVariant Identifiers: chr2:g.179457524T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178592797T>G , CM000664.2:g.178592797T>G GRCh38
NC_000002.11:g.179457524T>G , CM000664.1:g.179457524T>G GRCh37
NC_000002.10:g.179165770T>G NCBI36
NG_011618.3:g.243006A>C , LRG_391:g.243006A>C
NG_051363.1:g.74971T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.51618A>C (TTN) ENSP00000343764.6:p.Pro17206=
ENST00000342175.11:c.32703A>C (TTN) ENSP00000340554.6:p.Pro10901=
ENST00000359218.10:c.32502A>C (TTN) ENSP00000352154.5:p.Pro10834=
ENST00000342175.10:c.32703A>C (TTN) ENSP00000340554.6:p.Pro10901=
ENST00000342992.10:c.51618A>C (TTN) ENSP00000343764.6:p.Pro17206=
ENST00000359218.9:c.32502A>C (TTN) ENSP00000352154.5:p.Pro10834=
ENST00000460472.6:c.32127A>C (TTN) ENSP00000434586.1:p.Pro10709=
ENST00000589042.5:c.59322A>C (TTN) MANE Select ENSP00000467141.1:p.Pro19774=
ENST00000591111.5:c.54399A>C (TTN) ENSP00000465570.1:p.Pro18133=
ENST00000615779.4:c.54399A>C (TTN) ENSP00000483597.1:p.Pro18133=
NM_001256850.1:c.54399A>C (TTN) NP_001243779.1:p.Pro18133=
NM_001267550.2:c.59322A>C (TTN) MANE Select NP_001254479.2:p.Pro19774=
NM_003319.4:c.32127A>C (TTN) NP_003310.4:p.Pro10709=
NM_133378.4:c.51618A>C (TTN) NP_596869.4:p.Pro17206=
NM_133432.3:c.32502A>C (TTN) NP_597676.3:p.Pro10834=
NM_133437.4:c.32703A>C (TTN) NP_597681.4:p.Pro10901=
NR_038271.1:n.597-4799T>G (TTN-AS1)
NR_038272.1:n.3364+1483T>G (TTN-AS1)
XM_011511729.1:c.58419A>C (TTN) XP_011510031.1:p.Pro19473=
XM_011511730.1:c.32313A>C (TTN) XP_011510032.1:p.Pro10771=
XM_011511731.1:c.32172A>C (TTN) XP_011510033.1:p.Pro10724=
XM_017004819.1:c.58215A>C (TTN) XP_016860308.1:p.Pro19405=
XM_017004820.1:c.53613A>C (TTN) XP_016860309.1:p.Pro17871=
XM_017004821.1:c.53610A>C (TTN) XP_016860310.1:p.Pro17870=
XM_017004822.1:c.50652A>C (TTN) XP_016860311.1:p.Pro16884=
XM_017004823.1:c.32268A>C (TTN) XP_016860312.1:p.Pro10756=
XM_024453094.1:c.53763A>C (TTN) XP_024308862.1:p.Pro17921=
XM_024453095.1:c.53760A>C (TTN) XP_024308863.1:p.Pro17920=
XM_024453096.1:c.53193A>C (TTN) XP_024308864.1:p.Pro17731=
XM_024453097.1:c.50535A>C (TTN) XP_024308865.1:p.Pro16845=
XM_024453098.1:c.50454A>C (TTN) XP_024308866.1:p.Pro16818=
XM_024453099.1:c.32217A>C (TTN) XP_024308867.1:p.Pro10739=
XM_024453100.1:c.22071A>C (TTN) XP_024308868.1:p.Pro7357=