Canonical Allele Identifier: CA430252849

Linked Data

MyVariant Identifiers: chr2:g.179431926T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178567199T>G , CM000664.2:g.178567199T>G GRCh38
NC_000002.11:g.179431926T>G , CM000664.1:g.179431926T>G GRCh37
NC_000002.10:g.179140172T>G NCBI36
NG_011618.3:g.268604A>C , LRG_391:g.268604A>C
NG_051363.1:g.49373T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.71229A>C (TTN) ENSP00000343764.6:p.Pro23743=
ENST00000342175.11:c.52314A>C (TTN) ENSP00000340554.6:p.Pro17438=
ENST00000359218.10:c.52113A>C (TTN) ENSP00000352154.5:p.Pro17371=
ENST00000342175.10:c.52314A>C (TTN) ENSP00000340554.6:p.Pro17438=
ENST00000342992.10:c.71229A>C (TTN) ENSP00000343764.6:p.Pro23743=
ENST00000359218.9:c.52113A>C (TTN) ENSP00000352154.5:p.Pro17371=
ENST00000460472.6:c.51738A>C (TTN) ENSP00000434586.1:p.Pro17246=
ENST00000589042.5:c.78933A>C (TTN) MANE Select ENSP00000467141.1:p.Pro26311=
ENST00000591111.5:c.74010A>C (TTN) ENSP00000465570.1:p.Pro24670=
ENST00000615779.4:c.74010A>C (TTN) ENSP00000483597.1:p.Pro24670=
NM_001256850.1:c.74010A>C (TTN) NP_001243779.1:p.Pro24670=
NM_001267550.2:c.78933A>C (TTN) MANE Select NP_001254479.2:p.Pro26311=
NM_003319.4:c.51738A>C (TTN) NP_003310.4:p.Pro17246=
NM_133378.4:c.71229A>C (TTN) NP_596869.4:p.Pro23743=
NM_133432.3:c.52113A>C (TTN) NP_597676.3:p.Pro17371=
NM_133437.4:c.52314A>C (TTN) NP_597681.4:p.Pro17438=
NR_038271.1:n.447-4101T>G (TTN-AS1)
NR_038272.1:n.2044-15373T>G (TTN-AS1)
XM_011511729.1:c.78030A>C (TTN) XP_011510031.1:p.Pro26010=
XM_011511730.1:c.51924A>C (TTN) XP_011510032.1:p.Pro17308=
XM_011511731.1:c.51783A>C (TTN) XP_011510033.1:p.Pro17261=
XM_017004819.1:c.77826A>C (TTN) XP_016860308.1:p.Pro25942=
XM_017004820.1:c.73224A>C (TTN) XP_016860309.1:p.Pro24408=
XM_017004821.1:c.73221A>C (TTN) XP_016860310.1:p.Pro24407=
XM_017004822.1:c.70263A>C (TTN) XP_016860311.1:p.Pro23421=
XM_017004823.1:c.51879A>C (TTN) XP_016860312.1:p.Pro17293=
XM_024453094.1:c.73374A>C (TTN) XP_024308862.1:p.Pro24458=
XM_024453095.1:c.73371A>C (TTN) XP_024308863.1:p.Pro24457=
XM_024453096.1:c.72804A>C (TTN) XP_024308864.1:p.Pro24268=
XM_024453097.1:c.70146A>C (TTN) XP_024308865.1:p.Pro23382=
XM_024453098.1:c.70065A>C (TTN) XP_024308866.1:p.Pro23355=
XM_024453099.1:c.51828A>C (TTN) XP_024308867.1:p.Pro17276=
XM_024453100.1:c.41682A>C (TTN) XP_024308868.1:p.Pro13894=