Canonical Allele Identifier: CA430263229

Linked Data

MyVariant Identifiers: chr2:g.179449199A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178584472A>C , CM000664.2:g.178584472A>C GRCh38
NC_000002.11:g.179449199A>C , CM000664.1:g.179449199A>C GRCh37
NC_000002.10:g.179157445A>C NCBI36
NG_011618.3:g.251331T>G , LRG_391:g.251331T>G
NG_051363.1:g.66646A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.57375T>G (TTN) ENSP00000343764.6:p.Gly19125=
ENST00000342175.11:c.38460T>G (TTN) ENSP00000340554.6:p.Gly12820=
ENST00000359218.10:c.38259T>G (TTN) ENSP00000352154.5:p.Gly12753=
ENST00000342175.10:c.38460T>G (TTN) ENSP00000340554.6:p.Gly12820=
ENST00000342992.10:c.57375T>G (TTN) ENSP00000343764.6:p.Gly19125=
ENST00000359218.9:c.38259T>G (TTN) ENSP00000352154.5:p.Gly12753=
ENST00000460472.6:c.37884T>G (TTN) ENSP00000434586.1:p.Gly12628=
ENST00000589042.5:c.65079T>G (TTN) MANE Select ENSP00000467141.1:p.Gly21693=
ENST00000591111.5:c.60156T>G (TTN) ENSP00000465570.1:p.Gly20052=
ENST00000615779.4:c.60156T>G (TTN) ENSP00000483597.1:p.Gly20052=
NM_001256850.1:c.60156T>G (TTN) NP_001243779.1:p.Gly20052=
NM_001267550.2:c.65079T>G (TTN) MANE Select NP_001254479.2:p.Gly21693=
NM_003319.4:c.37884T>G (TTN) NP_003310.4:p.Gly12628=
NM_133378.4:c.57375T>G (TTN) NP_596869.4:p.Gly19125=
NM_133432.3:c.38259T>G (TTN) NP_597676.3:p.Gly12753=
NM_133437.4:c.38460T>G (TTN) NP_597681.4:p.Gly12820=
NR_038271.1:n.596+13023A>C (TTN-AS1)
NR_038272.1:n.2768-101A>C (TTN-AS1)
XM_011511729.1:c.64176T>G (TTN) XP_011510031.1:p.Gly21392=
XM_011511730.1:c.38070T>G (TTN) XP_011510032.1:p.Gly12690=
XM_011511731.1:c.37929T>G (TTN) XP_011510033.1:p.Gly12643=
XM_017004819.1:c.63972T>G (TTN) XP_016860308.1:p.Gly21324=
XM_017004820.1:c.59370T>G (TTN) XP_016860309.1:p.Gly19790=
XM_017004821.1:c.59367T>G (TTN) XP_016860310.1:p.Gly19789=
XM_017004822.1:c.56409T>G (TTN) XP_016860311.1:p.Gly18803=
XM_017004823.1:c.38025T>G (TTN) XP_016860312.1:p.Gly12675=
XM_024453094.1:c.59520T>G (TTN) XP_024308862.1:p.Gly19840=
XM_024453095.1:c.59517T>G (TTN) XP_024308863.1:p.Gly19839=
XM_024453096.1:c.58950T>G (TTN) XP_024308864.1:p.Gly19650=
XM_024453097.1:c.56292T>G (TTN) XP_024308865.1:p.Gly18764=
XM_024453098.1:c.56211T>G (TTN) XP_024308866.1:p.Gly18737=
XM_024453099.1:c.37974T>G (TTN) XP_024308867.1:p.Gly12658=
XM_024453100.1:c.27828T>G (TTN) XP_024308868.1:p.Gly9276=