Canonical Allele Identifier: CA430241720

Linked Data

MyVariant Identifiers: chr2:g.179409049T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544322T>C , CM000664.2:g.178544322T>C GRCh38
NC_000002.11:g.179409049T>C , CM000664.1:g.179409049T>C GRCh37
NC_000002.10:g.179117295T>C NCBI36
NG_011618.3:g.291481A>G , LRG_391:g.291481A>G
NG_051363.1:g.26496T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88203A>G (TTN) ENSP00000343764.6:p.Glu29401=
ENST00000342175.11:c.69288A>G (TTN) ENSP00000340554.6:p.Glu23096=
ENST00000359218.10:c.69087A>G (TTN) ENSP00000352154.5:p.Glu23029=
ENST00000342175.10:c.69288A>G (TTN) ENSP00000340554.6:p.Glu23096=
ENST00000342992.10:c.88203A>G (TTN) ENSP00000343764.6:p.Glu29401=
ENST00000359218.9:c.69087A>G (TTN) ENSP00000352154.5:p.Glu23029=
ENST00000460472.6:c.68712A>G (TTN) ENSP00000434586.1:p.Glu22904=
ENST00000589042.5:c.95907A>G (TTN) MANE Select ENSP00000467141.1:p.Glu31969=
ENST00000591111.5:c.90984A>G (TTN) ENSP00000465570.1:p.Glu30328=
ENST00000615779.4:c.90984A>G (TTN) ENSP00000483597.1:p.Glu30328=
NM_001256850.1:c.90984A>G (TTN) NP_001243779.1:p.Glu30328=
NM_001267550.2:c.95907A>G (TTN) MANE Select NP_001254479.2:p.Glu31969=
NM_003319.4:c.68712A>G (TTN) NP_003310.4:p.Glu22904=
NM_133378.4:c.88203A>G (TTN) NP_596869.4:p.Glu29401=
NM_133432.3:c.69087A>G (TTN) NP_597676.3:p.Glu23029=
NM_133437.4:c.69288A>G (TTN) NP_597681.4:p.Glu23096=
NR_038271.1:n.446+20686T>C (TTN-AS1)
NR_038272.1:n.2043+1961T>C (TTN-AS1)
XM_011511729.1:c.95004A>G (TTN) XP_011510031.1:p.Glu31668=
XM_011511730.1:c.68898A>G (TTN) XP_011510032.1:p.Glu22966=
XM_011511731.1:c.68757A>G (TTN) XP_011510033.1:p.Glu22919=
XM_017004819.1:c.94800A>G (TTN) XP_016860308.1:p.Glu31600=
XM_017004820.1:c.90198A>G (TTN) XP_016860309.1:p.Glu30066=
XM_017004821.1:c.90195A>G (TTN) XP_016860310.1:p.Glu30065=
XM_017004822.1:c.87237A>G (TTN) XP_016860311.1:p.Glu29079=
XM_017004823.1:c.68853A>G (TTN) XP_016860312.1:p.Glu22951=
XM_024453094.1:c.90348A>G (TTN) XP_024308862.1:p.Glu30116=
XM_024453095.1:c.90345A>G (TTN) XP_024308863.1:p.Glu30115=
XM_024453096.1:c.89778A>G (TTN) XP_024308864.1:p.Glu29926=
XM_024453097.1:c.87120A>G (TTN) XP_024308865.1:p.Glu29040=
XM_024453098.1:c.87039A>G (TTN) XP_024308866.1:p.Glu29013=
XM_024453099.1:c.68802A>G (TTN) XP_024308867.1:p.Glu22934=
XM_024453100.1:c.58656A>G (TTN) XP_024308868.1:p.Glu19552=