Canonical Allele Identifier: CA430256913

Linked Data

MyVariant Identifiers: chr2:g.179438706A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178573979A>C , CM000664.2:g.178573979A>C GRCh38
NC_000002.11:g.179438706A>C , CM000664.1:g.179438706A>C GRCh37
NC_000002.10:g.179146952A>C NCBI36
NG_011618.3:g.261824T>G , LRG_391:g.261824T>G
NG_051363.1:g.56153A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.64449T>G (TTN) ENSP00000343764.6:p.Ala21483=
ENST00000342175.11:c.45534T>G (TTN) ENSP00000340554.6:p.Ala15178=
ENST00000359218.10:c.45333T>G (TTN) ENSP00000352154.5:p.Ala15111=
ENST00000342175.10:c.45534T>G (TTN) ENSP00000340554.6:p.Ala15178=
ENST00000342992.10:c.64449T>G (TTN) ENSP00000343764.6:p.Ala21483=
ENST00000359218.9:c.45333T>G (TTN) ENSP00000352154.5:p.Ala15111=
ENST00000460472.6:c.44958T>G (TTN) ENSP00000434586.1:p.Ala14986=
ENST00000589042.5:c.72153T>G (TTN) MANE Select ENSP00000467141.1:p.Ala24051=
ENST00000591111.5:c.67230T>G (TTN) ENSP00000465570.1:p.Ala22410=
ENST00000615779.4:c.67230T>G (TTN) ENSP00000483597.1:p.Ala22410=
NM_001256850.1:c.67230T>G (TTN) NP_001243779.1:p.Ala22410=
NM_001267550.2:c.72153T>G (TTN) MANE Select NP_001254479.2:p.Ala24051=
NM_003319.4:c.44958T>G (TTN) NP_003310.4:p.Ala14986=
NM_133378.4:c.64449T>G (TTN) NP_596869.4:p.Ala21483=
NM_133432.3:c.45333T>G (TTN) NP_597676.3:p.Ala15111=
NM_133437.4:c.45534T>G (TTN) NP_597681.4:p.Ala15178=
NR_038271.1:n.596+2530A>C (TTN-AS1)
NR_038272.1:n.2044-8593A>C (TTN-AS1)
XM_011511729.1:c.71250T>G (TTN) XP_011510031.1:p.Ala23750=
XM_011511730.1:c.45144T>G (TTN) XP_011510032.1:p.Ala15048=
XM_011511731.1:c.45003T>G (TTN) XP_011510033.1:p.Ala15001=
XM_017004819.1:c.71046T>G (TTN) XP_016860308.1:p.Ala23682=
XM_017004820.1:c.66444T>G (TTN) XP_016860309.1:p.Ala22148=
XM_017004821.1:c.66441T>G (TTN) XP_016860310.1:p.Ala22147=
XM_017004822.1:c.63483T>G (TTN) XP_016860311.1:p.Ala21161=
XM_017004823.1:c.45099T>G (TTN) XP_016860312.1:p.Ala15033=
XM_024453094.1:c.66594T>G (TTN) XP_024308862.1:p.Ala22198=
XM_024453095.1:c.66591T>G (TTN) XP_024308863.1:p.Ala22197=
XM_024453096.1:c.66024T>G (TTN) XP_024308864.1:p.Ala22008=
XM_024453097.1:c.63366T>G (TTN) XP_024308865.1:p.Ala21122=
XM_024453098.1:c.63285T>G (TTN) XP_024308866.1:p.Ala21095=
XM_024453099.1:c.45048T>G (TTN) XP_024308867.1:p.Ala15016=
XM_024453100.1:c.34902T>G (TTN) XP_024308868.1:p.Ala11634=