Canonical Allele Identifier: CA430242411

Linked Data

MyVariant Identifiers: chr2:g.179411412C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546685C>T , CM000664.2:g.178546685C>T GRCh38
NC_000002.11:g.179411412C>T , CM000664.1:g.179411412C>T GRCh37
NC_000002.10:g.179119658C>T NCBI36
NG_011618.3:g.289118G>A , LRG_391:g.289118G>A
NG_051363.1:g.28859C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.87039G>A (TTN) ENSP00000343764.6:p.Glu29013=
ENST00000342175.11:c.68124G>A (TTN) ENSP00000340554.6:p.Glu22708=
ENST00000359218.10:c.67923G>A (TTN) ENSP00000352154.5:p.Glu22641=
ENST00000342175.10:c.68124G>A (TTN) ENSP00000340554.6:p.Glu22708=
ENST00000342992.10:c.87039G>A (TTN) ENSP00000343764.6:p.Glu29013=
ENST00000359218.9:c.67923G>A (TTN) ENSP00000352154.5:p.Glu22641=
ENST00000460472.6:c.67548G>A (TTN) ENSP00000434586.1:p.Glu22516=
ENST00000589042.5:c.94743G>A (TTN) MANE Select ENSP00000467141.1:p.Glu31581=
ENST00000591111.5:c.89820G>A (TTN) ENSP00000465570.1:p.Glu29940=
ENST00000615779.4:c.89820G>A (TTN) ENSP00000483597.1:p.Glu29940=
NM_001256850.1:c.89820G>A (TTN) NP_001243779.1:p.Glu29940=
NM_001267550.2:c.94743G>A (TTN) MANE Select NP_001254479.2:p.Glu31581=
NM_003319.4:c.67548G>A (TTN) NP_003310.4:p.Glu22516=
NM_133378.4:c.87039G>A (TTN) NP_596869.4:p.Glu29013=
NM_133432.3:c.67923G>A (TTN) NP_597676.3:p.Glu22641=
NM_133437.4:c.68124G>A (TTN) NP_597681.4:p.Glu22708=
NR_038271.1:n.446+23049C>T (TTN-AS1)
NR_038272.1:n.2043+4324C>T (TTN-AS1)
XM_011511729.1:c.93840G>A (TTN) XP_011510031.1:p.Glu31280=
XM_011511730.1:c.67734G>A (TTN) XP_011510032.1:p.Glu22578=
XM_011511731.1:c.67593G>A (TTN) XP_011510033.1:p.Glu22531=
XM_017004819.1:c.93636G>A (TTN) XP_016860308.1:p.Glu31212=
XM_017004820.1:c.89034G>A (TTN) XP_016860309.1:p.Glu29678=
XM_017004821.1:c.89031G>A (TTN) XP_016860310.1:p.Glu29677=
XM_017004822.1:c.86073G>A (TTN) XP_016860311.1:p.Glu28691=
XM_017004823.1:c.67689G>A (TTN) XP_016860312.1:p.Glu22563=
XM_024453094.1:c.89184G>A (TTN) XP_024308862.1:p.Glu29728=
XM_024453095.1:c.89181G>A (TTN) XP_024308863.1:p.Glu29727=
XM_024453096.1:c.88614G>A (TTN) XP_024308864.1:p.Glu29538=
XM_024453097.1:c.85956G>A (TTN) XP_024308865.1:p.Glu28652=
XM_024453098.1:c.85875G>A (TTN) XP_024308866.1:p.Glu28625=
XM_024453099.1:c.67638G>A (TTN) XP_024308867.1:p.Glu22546=
XM_024453100.1:c.57492G>A (TTN) XP_024308868.1:p.Glu19164=