Canonical Allele Identifier: CA430241926

Linked Data

MyVariant Identifiers: chr2:g.179409130T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544403T>C , CM000664.2:g.178544403T>C GRCh38
NC_000002.11:g.179409130T>C , CM000664.1:g.179409130T>C GRCh37
NC_000002.10:g.179117376T>C NCBI36
NG_011618.3:g.291400A>G , LRG_391:g.291400A>G
NG_051363.1:g.26577T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88122A>G (TTN) ENSP00000343764.6:p.Val29374=
ENST00000342175.11:c.69207A>G (TTN) ENSP00000340554.6:p.Val23069=
ENST00000359218.10:c.69006A>G (TTN) ENSP00000352154.5:p.Val23002=
ENST00000342175.10:c.69207A>G (TTN) ENSP00000340554.6:p.Val23069=
ENST00000342992.10:c.88122A>G (TTN) ENSP00000343764.6:p.Val29374=
ENST00000359218.9:c.69006A>G (TTN) ENSP00000352154.5:p.Val23002=
ENST00000460472.6:c.68631A>G (TTN) ENSP00000434586.1:p.Val22877=
ENST00000589042.5:c.95826A>G (TTN) MANE Select ENSP00000467141.1:p.Val31942=
ENST00000591111.5:c.90903A>G (TTN) ENSP00000465570.1:p.Val30301=
ENST00000615779.4:c.90903A>G (TTN) ENSP00000483597.1:p.Val30301=
NM_001256850.1:c.90903A>G (TTN) NP_001243779.1:p.Val30301=
NM_001267550.2:c.95826A>G (TTN) MANE Select NP_001254479.2:p.Val31942=
NM_003319.4:c.68631A>G (TTN) NP_003310.4:p.Val22877=
NM_133378.4:c.88122A>G (TTN) NP_596869.4:p.Val29374=
NM_133432.3:c.69006A>G (TTN) NP_597676.3:p.Val23002=
NM_133437.4:c.69207A>G (TTN) NP_597681.4:p.Val23069=
NR_038271.1:n.446+20767T>C (TTN-AS1)
NR_038272.1:n.2043+2042T>C (TTN-AS1)
XM_011511729.1:c.94923A>G (TTN) XP_011510031.1:p.Val31641=
XM_011511730.1:c.68817A>G (TTN) XP_011510032.1:p.Val22939=
XM_011511731.1:c.68676A>G (TTN) XP_011510033.1:p.Val22892=
XM_017004819.1:c.94719A>G (TTN) XP_016860308.1:p.Val31573=
XM_017004820.1:c.90117A>G (TTN) XP_016860309.1:p.Val30039=
XM_017004821.1:c.90114A>G (TTN) XP_016860310.1:p.Val30038=
XM_017004822.1:c.87156A>G (TTN) XP_016860311.1:p.Val29052=
XM_017004823.1:c.68772A>G (TTN) XP_016860312.1:p.Val22924=
XM_024453094.1:c.90267A>G (TTN) XP_024308862.1:p.Val30089=
XM_024453095.1:c.90264A>G (TTN) XP_024308863.1:p.Val30088=
XM_024453096.1:c.89697A>G (TTN) XP_024308864.1:p.Val29899=
XM_024453097.1:c.87039A>G (TTN) XP_024308865.1:p.Val29013=
XM_024453098.1:c.86958A>G (TTN) XP_024308866.1:p.Val28986=
XM_024453099.1:c.68721A>G (TTN) XP_024308867.1:p.Val22907=
XM_024453100.1:c.58575A>G (TTN) XP_024308868.1:p.Val19525=