Canonical Allele Identifier: CA430239266

Linked Data

MyVariant Identifiers: chr2:g.179402280A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178537553A>G , CM000664.2:g.178537553A>G GRCh38
NC_000002.11:g.179402280A>G , CM000664.1:g.179402280A>G GRCh37
NC_000002.10:g.179110526A>G NCBI36
NG_011618.3:g.298250T>C , LRG_391:g.298250T>C
NG_051363.1:g.19727A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.91950T>C (TTN) ENSP00000343764.6:p.Val30650=
ENST00000342175.11:c.73035T>C (TTN) ENSP00000340554.6:p.Val24345=
ENST00000359218.10:c.72834T>C (TTN) ENSP00000352154.5:p.Val24278=
ENST00000342175.10:c.73035T>C (TTN) ENSP00000340554.6:p.Val24345=
ENST00000342992.10:c.91950T>C (TTN) ENSP00000343764.6:p.Val30650=
ENST00000359218.9:c.72834T>C (TTN) ENSP00000352154.5:p.Val24278=
ENST00000460472.6:c.72459T>C (TTN) ENSP00000434586.1:p.Val24153=
ENST00000589042.5:c.99654T>C (TTN) MANE Select ENSP00000467141.1:p.Val33218=
ENST00000591111.5:c.94731T>C (TTN) ENSP00000465570.1:p.Val31577=
ENST00000615779.4:c.94731T>C (TTN) ENSP00000483597.1:p.Val31577=
NM_001256850.1:c.94731T>C (TTN) NP_001243779.1:p.Val31577=
NM_001267550.2:c.99654T>C (TTN) MANE Select NP_001254479.2:p.Val33218=
NM_003319.4:c.72459T>C (TTN) NP_003310.4:p.Val24153=
NM_133378.4:c.91950T>C (TTN) NP_596869.4:p.Val30650=
NM_133432.3:c.72834T>C (TTN) NP_597676.3:p.Val24278=
NM_133437.4:c.73035T>C (TTN) NP_597681.4:p.Val24345=
NR_038271.1:n.446+13917A>G (TTN-AS1)
NR_038272.1:n.509A>G (TTN-AS1)
XM_011511729.1:c.98751T>C (TTN) XP_011510031.1:p.Val32917=
XM_011511730.1:c.72645T>C (TTN) XP_011510032.1:p.Val24215=
XM_011511731.1:c.72504T>C (TTN) XP_011510033.1:p.Val24168=
XM_017004819.1:c.98547T>C (TTN) XP_016860308.1:p.Val32849=
XM_017004820.1:c.93945T>C (TTN) XP_016860309.1:p.Val31315=
XM_017004821.1:c.93942T>C (TTN) XP_016860310.1:p.Val31314=
XM_017004822.1:c.90984T>C (TTN) XP_016860311.1:p.Val30328=
XM_017004823.1:c.72600T>C (TTN) XP_016860312.1:p.Val24200=
XM_024453094.1:c.94095T>C (TTN) XP_024308862.1:p.Val31365=
XM_024453095.1:c.94092T>C (TTN) XP_024308863.1:p.Val31364=
XM_024453096.1:c.93525T>C (TTN) XP_024308864.1:p.Val31175=
XM_024453097.1:c.90867T>C (TTN) XP_024308865.1:p.Val30289=
XM_024453098.1:c.90786T>C (TTN) XP_024308866.1:p.Val30262=
XM_024453099.1:c.72549T>C (TTN) XP_024308867.1:p.Val24183=
XM_024453100.1:c.62403T>C (TTN) XP_024308868.1:p.Val20801=