Canonical Allele Identifier: CA430235110

Linked Data

MyVariant Identifiers: chr2:g.179395235T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530508T>C , CM000664.2:g.178530508T>C GRCh38
NC_000002.11:g.179395235T>C , CM000664.1:g.179395235T>C GRCh37
NC_000002.10:g.179103481T>C NCBI36
NG_011618.3:g.305295A>G , LRG_391:g.305295A>G
NG_051363.1:g.12682T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98403A>G (TTN) ENSP00000343764.6:p.Lys32801=
ENST00000342175.11:c.79488A>G (TTN) ENSP00000340554.6:p.Lys26496=
ENST00000359218.10:c.79287A>G (TTN) ENSP00000352154.5:p.Lys26429=
ENST00000342175.10:c.79488A>G (TTN) ENSP00000340554.6:p.Lys26496=
ENST00000342992.10:c.98403A>G (TTN) ENSP00000343764.6:p.Lys32801=
ENST00000359218.9:c.79287A>G (TTN) ENSP00000352154.5:p.Lys26429=
ENST00000460472.6:c.78912A>G (TTN) ENSP00000434586.1:p.Lys26304=
ENST00000589042.5:c.106107A>G (TTN) MANE Select ENSP00000467141.1:p.Lys35369=
ENST00000591111.5:c.101184A>G (TTN) ENSP00000465570.1:p.Lys33728=
ENST00000615779.4:c.101184A>G (TTN) ENSP00000483597.1:p.Lys33728=
NM_001256850.1:c.101184A>G (TTN) NP_001243779.1:p.Lys33728=
NM_001267550.2:c.106107A>G (TTN) MANE Select NP_001254479.2:p.Lys35369=
NM_003319.4:c.78912A>G (TTN) NP_003310.4:p.Lys26304=
NM_133378.4:c.98403A>G (TTN) NP_596869.4:p.Lys32801=
NM_133432.3:c.79287A>G (TTN) NP_597676.3:p.Lys26429=
NM_133437.4:c.79488A>G (TTN) NP_597681.4:p.Lys26496=
NR_038271.1:n.446+6872T>C (TTN-AS1)
NR_038272.1:n.220-5224T>C (TTN-AS1)
XM_011511729.1:c.105204A>G (TTN) XP_011510031.1:p.Lys35068=
XM_011511730.1:c.79098A>G (TTN) XP_011510032.1:p.Lys26366=
XM_011511731.1:c.78957A>G (TTN) XP_011510033.1:p.Lys26319=
XM_017004819.1:c.105000A>G (TTN) XP_016860308.1:p.Lys35000=
XM_017004820.1:c.100398A>G (TTN) XP_016860309.1:p.Lys33466=
XM_017004821.1:c.100395A>G (TTN) XP_016860310.1:p.Lys33465=
XM_017004822.1:c.97437A>G (TTN) XP_016860311.1:p.Lys32479=
XM_017004823.1:c.79053A>G (TTN) XP_016860312.1:p.Lys26351=
XM_024453094.1:c.100548A>G (TTN) XP_024308862.1:p.Lys33516=
XM_024453095.1:c.100545A>G (TTN) XP_024308863.1:p.Lys33515=
XM_024453096.1:c.99978A>G (TTN) XP_024308864.1:p.Lys33326=
XM_024453097.1:c.97320A>G (TTN) XP_024308865.1:p.Lys32440=
XM_024453098.1:c.97239A>G (TTN) XP_024308866.1:p.Lys32413=
XM_024453099.1:c.79002A>G (TTN) XP_024308867.1:p.Lys26334=
XM_024453100.1:c.68856A>G (TTN) XP_024308868.1:p.Lys22952=