Canonical Allele Identifier: CA430235165

Linked Data

MyVariant Identifiers: chr2:g.179395262C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530535C>T , CM000664.2:g.178530535C>T GRCh38
NC_000002.11:g.179395262C>T , CM000664.1:g.179395262C>T GRCh37
NC_000002.10:g.179103508C>T NCBI36
NG_011618.3:g.305268G>A , LRG_391:g.305268G>A
NG_051363.1:g.12709C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98376G>A (TTN) ENSP00000343764.6:p.Glu32792=
ENST00000342175.11:c.79461G>A (TTN) ENSP00000340554.6:p.Glu26487=
ENST00000359218.10:c.79260G>A (TTN) ENSP00000352154.5:p.Glu26420=
ENST00000342175.10:c.79461G>A (TTN) ENSP00000340554.6:p.Glu26487=
ENST00000342992.10:c.98376G>A (TTN) ENSP00000343764.6:p.Glu32792=
ENST00000359218.9:c.79260G>A (TTN) ENSP00000352154.5:p.Glu26420=
ENST00000460472.6:c.78885G>A (TTN) ENSP00000434586.1:p.Glu26295=
ENST00000589042.5:c.106080G>A (TTN) MANE Select ENSP00000467141.1:p.Glu35360=
ENST00000591111.5:c.101157G>A (TTN) ENSP00000465570.1:p.Glu33719=
ENST00000615779.4:c.101157G>A (TTN) ENSP00000483597.1:p.Glu33719=
NM_001256850.1:c.101157G>A (TTN) NP_001243779.1:p.Glu33719=
NM_001267550.2:c.106080G>A (TTN) MANE Select NP_001254479.2:p.Glu35360=
NM_003319.4:c.78885G>A (TTN) NP_003310.4:p.Glu26295=
NM_133378.4:c.98376G>A (TTN) NP_596869.4:p.Glu32792=
NM_133432.3:c.79260G>A (TTN) NP_597676.3:p.Glu26420=
NM_133437.4:c.79461G>A (TTN) NP_597681.4:p.Glu26487=
NR_038271.1:n.446+6899C>T (TTN-AS1)
NR_038272.1:n.220-5197C>T (TTN-AS1)
XM_011511729.1:c.105177G>A (TTN) XP_011510031.1:p.Glu35059=
XM_011511730.1:c.79071G>A (TTN) XP_011510032.1:p.Glu26357=
XM_011511731.1:c.78930G>A (TTN) XP_011510033.1:p.Glu26310=
XM_017004819.1:c.104973G>A (TTN) XP_016860308.1:p.Glu34991=
XM_017004820.1:c.100371G>A (TTN) XP_016860309.1:p.Glu33457=
XM_017004821.1:c.100368G>A (TTN) XP_016860310.1:p.Glu33456=
XM_017004822.1:c.97410G>A (TTN) XP_016860311.1:p.Glu32470=
XM_017004823.1:c.79026G>A (TTN) XP_016860312.1:p.Glu26342=
XM_024453094.1:c.100521G>A (TTN) XP_024308862.1:p.Glu33507=
XM_024453095.1:c.100518G>A (TTN) XP_024308863.1:p.Glu33506=
XM_024453096.1:c.99951G>A (TTN) XP_024308864.1:p.Glu33317=
XM_024453097.1:c.97293G>A (TTN) XP_024308865.1:p.Glu32431=
XM_024453098.1:c.97212G>A (TTN) XP_024308866.1:p.Glu32404=
XM_024453099.1:c.78975G>A (TTN) XP_024308867.1:p.Glu26325=
XM_024453100.1:c.68829G>A (TTN) XP_024308868.1:p.Glu22943=