Canonical Allele Identifier: CA430245271

Linked Data

MyVariant Identifiers: chr2:g.179417189C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178552462C>A , CM000664.2:g.178552462C>A GRCh38
NC_000002.11:g.179417189C>A , CM000664.1:g.179417189C>A GRCh37
NC_000002.10:g.179125435C>A NCBI36
NG_011618.3:g.283341G>T , LRG_391:g.283341G>T
NG_051363.1:g.34636C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.82734G>T (TTN) ENSP00000343764.6:p.Gly27578=
ENST00000342175.11:c.63819G>T (TTN) ENSP00000340554.6:p.Gly21273=
ENST00000359218.10:c.63618G>T (TTN) ENSP00000352154.5:p.Gly21206=
ENST00000342175.10:c.63819G>T (TTN) ENSP00000340554.6:p.Gly21273=
ENST00000342992.10:c.82734G>T (TTN) ENSP00000343764.6:p.Gly27578=
ENST00000359218.9:c.63618G>T (TTN) ENSP00000352154.5:p.Gly21206=
ENST00000460472.6:c.63243G>T (TTN) ENSP00000434586.1:p.Gly21081=
ENST00000589042.5:c.90438G>T (TTN) MANE Select ENSP00000467141.1:p.Gly30146=
ENST00000591111.5:c.85515G>T (TTN) ENSP00000465570.1:p.Gly28505=
ENST00000615779.4:c.85515G>T (TTN) ENSP00000483597.1:p.Gly28505=
NM_001256850.1:c.85515G>T (TTN) NP_001243779.1:p.Gly28505=
NM_001267550.2:c.90438G>T (TTN) MANE Select NP_001254479.2:p.Gly30146=
NM_003319.4:c.63243G>T (TTN) NP_003310.4:p.Gly21081=
NM_133378.4:c.82734G>T (TTN) NP_596869.4:p.Gly27578=
NM_133432.3:c.63618G>T (TTN) NP_597676.3:p.Gly21206=
NM_133437.4:c.63819G>T (TTN) NP_597681.4:p.Gly21273=
NR_038271.1:n.447-18838C>A (TTN-AS1)
NR_038272.1:n.2043+10101C>A (TTN-AS1)
XM_011511729.1:c.89535G>T (TTN) XP_011510031.1:p.Gly29845=
XM_011511730.1:c.63429G>T (TTN) XP_011510032.1:p.Gly21143=
XM_011511731.1:c.63288G>T (TTN) XP_011510033.1:p.Gly21096=
XM_017004819.1:c.89331G>T (TTN) XP_016860308.1:p.Gly29777=
XM_017004820.1:c.84729G>T (TTN) XP_016860309.1:p.Gly28243=
XM_017004821.1:c.84726G>T (TTN) XP_016860310.1:p.Gly28242=
XM_017004822.1:c.81768G>T (TTN) XP_016860311.1:p.Gly27256=
XM_017004823.1:c.63384G>T (TTN) XP_016860312.1:p.Gly21128=
XM_024453094.1:c.84879G>T (TTN) XP_024308862.1:p.Gly28293=
XM_024453095.1:c.84876G>T (TTN) XP_024308863.1:p.Gly28292=
XM_024453096.1:c.84309G>T (TTN) XP_024308864.1:p.Gly28103=
XM_024453097.1:c.81651G>T (TTN) XP_024308865.1:p.Gly27217=
XM_024453098.1:c.81570G>T (TTN) XP_024308866.1:p.Gly27190=
XM_024453099.1:c.63333G>T (TTN) XP_024308867.1:p.Gly21111=
XM_024453100.1:c.53187G>T (TTN) XP_024308868.1:p.Gly17729=