Canonical Allele Identifier: CA430263473

Linked Data

MyVariant Identifiers: chr2:g.179449301A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178584574A>G , CM000664.2:g.178584574A>G GRCh38
NC_000002.11:g.179449301A>G , CM000664.1:g.179449301A>G GRCh37
NC_000002.10:g.179157547A>G NCBI36
NG_011618.3:g.251229T>C , LRG_391:g.251229T>C
NG_051363.1:g.66748A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.57273T>C (TTN) ENSP00000343764.6:p.Val19091=
ENST00000342175.11:c.38358T>C (TTN) ENSP00000340554.6:p.Val12786=
ENST00000359218.10:c.38157T>C (TTN) ENSP00000352154.5:p.Val12719=
ENST00000342175.10:c.38358T>C (TTN) ENSP00000340554.6:p.Val12786=
ENST00000342992.10:c.57273T>C (TTN) ENSP00000343764.6:p.Val19091=
ENST00000359218.9:c.38157T>C (TTN) ENSP00000352154.5:p.Val12719=
ENST00000460472.6:c.37782T>C (TTN) ENSP00000434586.1:p.Val12594=
ENST00000589042.5:c.64977T>C (TTN) MANE Select ENSP00000467141.1:p.Val21659=
ENST00000591111.5:c.60054T>C (TTN) ENSP00000465570.1:p.Val20018=
ENST00000615779.4:c.60054T>C (TTN) ENSP00000483597.1:p.Val20018=
NM_001256850.1:c.60054T>C (TTN) NP_001243779.1:p.Val20018=
NM_001267550.2:c.64977T>C (TTN) MANE Select NP_001254479.2:p.Val21659=
NM_003319.4:c.37782T>C (TTN) NP_003310.4:p.Val12594=
NM_133378.4:c.57273T>C (TTN) NP_596869.4:p.Val19091=
NM_133432.3:c.38157T>C (TTN) NP_597676.3:p.Val12719=
NM_133437.4:c.38358T>C (TTN) NP_597681.4:p.Val12786=
NR_038271.1:n.597-13022A>G (TTN-AS1)
NR_038272.1:n.2769A>G (TTN-AS1)
XM_011511729.1:c.64074T>C (TTN) XP_011510031.1:p.Val21358=
XM_011511730.1:c.37968T>C (TTN) XP_011510032.1:p.Val12656=
XM_011511731.1:c.37827T>C (TTN) XP_011510033.1:p.Val12609=
XM_017004819.1:c.63870T>C (TTN) XP_016860308.1:p.Val21290=
XM_017004820.1:c.59268T>C (TTN) XP_016860309.1:p.Val19756=
XM_017004821.1:c.59265T>C (TTN) XP_016860310.1:p.Val19755=
XM_017004822.1:c.56307T>C (TTN) XP_016860311.1:p.Val18769=
XM_017004823.1:c.37923T>C (TTN) XP_016860312.1:p.Val12641=
XM_024453094.1:c.59418T>C (TTN) XP_024308862.1:p.Val19806=
XM_024453095.1:c.59415T>C (TTN) XP_024308863.1:p.Val19805=
XM_024453096.1:c.58848T>C (TTN) XP_024308864.1:p.Val19616=
XM_024453097.1:c.56190T>C (TTN) XP_024308865.1:p.Val18730=
XM_024453098.1:c.56109T>C (TTN) XP_024308866.1:p.Val18703=
XM_024453099.1:c.37872T>C (TTN) XP_024308867.1:p.Val12624=
XM_024453100.1:c.27726T>C (TTN) XP_024308868.1:p.Val9242=