Canonical Allele Identifier: CA430274539

Linked Data

MyVariant Identifiers: chr2:g.179482801T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178618074T>A , CM000664.2:g.178618074T>A GRCh38
NC_000002.11:g.179482801T>A , CM000664.1:g.179482801T>A GRCh37
NC_000002.10:g.179191046T>A NCBI36
NG_011618.3:g.217729A>T , LRG_391:g.217729A>T
NG_051363.1:g.100248T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.39573A>T (TTN) ENSP00000343764.6:p.Pro13191=
ENST00000342175.11:c.20658A>T (TTN) ENSP00000340554.6:p.Pro6886=
ENST00000359218.10:c.20457A>T (TTN) ENSP00000352154.5:p.Pro6819=
ENST00000342175.10:c.20658A>T (TTN) ENSP00000340554.6:p.Pro6886=
ENST00000342992.10:c.39573A>T (TTN) ENSP00000343764.6:p.Pro13191=
ENST00000359218.9:c.20457A>T (TTN) ENSP00000352154.5:p.Pro6819=
ENST00000460472.6:c.20082A>T (TTN) ENSP00000434586.1:p.Pro6694=
ENST00000589042.5:c.47277A>T (TTN) MANE Select ENSP00000467141.1:p.Pro15759=
ENST00000591111.5:c.42354A>T (TTN) ENSP00000465570.1:p.Pro14118=
ENST00000615779.4:c.42354A>T (TTN) ENSP00000483597.1:p.Pro14118=
NM_001256850.1:c.42354A>T (TTN) NP_001243779.1:p.Pro14118=
NM_001267550.2:c.47277A>T (TTN) MANE Select NP_001254479.2:p.Pro15759=
NM_003319.4:c.20082A>T (TTN) NP_003310.4:p.Pro6694=
NM_133378.4:c.39573A>T (TTN) NP_596869.4:p.Pro13191=
NM_133432.3:c.20457A>T (TTN) NP_597676.3:p.Pro6819=
NM_133437.4:c.20658A>T (TTN) NP_597681.4:p.Pro6886=
NR_038271.1:n.1605-1679T>A (TTN-AS1)
XM_011511729.1:c.46374A>T (TTN) XP_011510031.1:p.Pro15458=
XM_011511730.1:c.20268A>T (TTN) XP_011510032.1:p.Pro6756=
XM_011511731.1:c.20127A>T (TTN) XP_011510033.1:p.Pro6709=
XM_017004819.1:c.46170A>T (TTN) XP_016860308.1:p.Pro15390=
XM_017004820.1:c.41568A>T (TTN) XP_016860309.1:p.Pro13856=
XM_017004821.1:c.41565A>T (TTN) XP_016860310.1:p.Pro13855=
XM_017004822.1:c.38607A>T (TTN) XP_016860311.1:p.Pro12869=
XM_017004823.1:c.20223A>T (TTN) XP_016860312.1:p.Pro6741=
XM_024453094.1:c.41718A>T (TTN) XP_024308862.1:p.Pro13906=
XM_024453095.1:c.41715A>T (TTN) XP_024308863.1:p.Pro13905=
XM_024453096.1:c.41148A>T (TTN) XP_024308864.1:p.Pro13716=
XM_024453097.1:c.38490A>T (TTN) XP_024308865.1:p.Pro12830=
XM_024453098.1:c.38409A>T (TTN) XP_024308866.1:p.Pro12803=
XM_024453099.1:c.20172A>T (TTN) XP_024308867.1:p.Pro6724=
XM_024453100.1:c.10026A>T (TTN) XP_024308868.1:p.Pro3342=