Canonical Allele Identifier: CA430257192

Linked Data

MyVariant Identifiers: chr2:g.179439078T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178574351T>C , CM000664.2:g.178574351T>C GRCh38
NC_000002.11:g.179439078T>C , CM000664.1:g.179439078T>C GRCh37
NC_000002.10:g.179147324T>C NCBI36
NG_011618.3:g.261452A>G , LRG_391:g.261452A>G
NG_051363.1:g.56525T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.64077A>G (TTN) ENSP00000343764.6:p.Pro21359=
ENST00000342175.11:c.45162A>G (TTN) ENSP00000340554.6:p.Pro15054=
ENST00000359218.10:c.44961A>G (TTN) ENSP00000352154.5:p.Pro14987=
ENST00000342175.10:c.45162A>G (TTN) ENSP00000340554.6:p.Pro15054=
ENST00000342992.10:c.64077A>G (TTN) ENSP00000343764.6:p.Pro21359=
ENST00000359218.9:c.44961A>G (TTN) ENSP00000352154.5:p.Pro14987=
ENST00000460472.6:c.44586A>G (TTN) ENSP00000434586.1:p.Pro14862=
ENST00000589042.5:c.71781A>G (TTN) MANE Select ENSP00000467141.1:p.Pro23927=
ENST00000591111.5:c.66858A>G (TTN) ENSP00000465570.1:p.Pro22286=
ENST00000615779.4:c.66858A>G (TTN) ENSP00000483597.1:p.Pro22286=
NM_001256850.1:c.66858A>G (TTN) NP_001243779.1:p.Pro22286=
NM_001267550.2:c.71781A>G (TTN) MANE Select NP_001254479.2:p.Pro23927=
NM_003319.4:c.44586A>G (TTN) NP_003310.4:p.Pro14862=
NM_133378.4:c.64077A>G (TTN) NP_596869.4:p.Pro21359=
NM_133432.3:c.44961A>G (TTN) NP_597676.3:p.Pro14987=
NM_133437.4:c.45162A>G (TTN) NP_597681.4:p.Pro15054=
NR_038271.1:n.596+2902T>C (TTN-AS1)
NR_038272.1:n.2044-8221T>C (TTN-AS1)
XM_011511729.1:c.70878A>G (TTN) XP_011510031.1:p.Pro23626=
XM_011511730.1:c.44772A>G (TTN) XP_011510032.1:p.Pro14924=
XM_011511731.1:c.44631A>G (TTN) XP_011510033.1:p.Pro14877=
XM_017004819.1:c.70674A>G (TTN) XP_016860308.1:p.Pro23558=
XM_017004820.1:c.66072A>G (TTN) XP_016860309.1:p.Pro22024=
XM_017004821.1:c.66069A>G (TTN) XP_016860310.1:p.Pro22023=
XM_017004822.1:c.63111A>G (TTN) XP_016860311.1:p.Pro21037=
XM_017004823.1:c.44727A>G (TTN) XP_016860312.1:p.Pro14909=
XM_024453094.1:c.66222A>G (TTN) XP_024308862.1:p.Pro22074=
XM_024453095.1:c.66219A>G (TTN) XP_024308863.1:p.Pro22073=
XM_024453096.1:c.65652A>G (TTN) XP_024308864.1:p.Pro21884=
XM_024453097.1:c.62994A>G (TTN) XP_024308865.1:p.Pro20998=
XM_024453098.1:c.62913A>G (TTN) XP_024308866.1:p.Pro20971=
XM_024453099.1:c.44676A>G (TTN) XP_024308867.1:p.Pro14892=
XM_024453100.1:c.34530A>G (TTN) XP_024308868.1:p.Pro11510=