Canonical Allele Identifier: CA430241661

Linked Data

MyVariant Identifiers: chr2:g.179408953A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544226A>G , CM000664.2:g.178544226A>G GRCh38
NC_000002.11:g.179408953A>G , CM000664.1:g.179408953A>G GRCh37
NC_000002.10:g.179117199A>G NCBI36
NG_011618.3:g.291577T>C , LRG_391:g.291577T>C
NG_051363.1:g.26400A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.88299T>C (TTN) ENSP00000343764.6:p.Ala29433=
ENST00000342175.11:c.69384T>C (TTN) ENSP00000340554.6:p.Ala23128=
ENST00000359218.10:c.69183T>C (TTN) ENSP00000352154.5:p.Ala23061=
ENST00000342175.10:c.69384T>C (TTN) ENSP00000340554.6:p.Ala23128=
ENST00000342992.10:c.88299T>C (TTN) ENSP00000343764.6:p.Ala29433=
ENST00000359218.9:c.69183T>C (TTN) ENSP00000352154.5:p.Ala23061=
ENST00000460472.6:c.68808T>C (TTN) ENSP00000434586.1:p.Ala22936=
ENST00000589042.5:c.96003T>C (TTN) MANE Select ENSP00000467141.1:p.Ala32001=
ENST00000591111.5:c.91080T>C (TTN) ENSP00000465570.1:p.Ala30360=
ENST00000615779.4:c.91080T>C (TTN) ENSP00000483597.1:p.Ala30360=
NM_001256850.1:c.91080T>C (TTN) NP_001243779.1:p.Ala30360=
NM_001267550.2:c.96003T>C (TTN) MANE Select NP_001254479.2:p.Ala32001=
NM_003319.4:c.68808T>C (TTN) NP_003310.4:p.Ala22936=
NM_133378.4:c.88299T>C (TTN) NP_596869.4:p.Ala29433=
NM_133432.3:c.69183T>C (TTN) NP_597676.3:p.Ala23061=
NM_133437.4:c.69384T>C (TTN) NP_597681.4:p.Ala23128=
NR_038271.1:n.446+20590A>G (TTN-AS1)
NR_038272.1:n.2043+1865A>G (TTN-AS1)
XM_011511729.1:c.95100T>C (TTN) XP_011510031.1:p.Ala31700=
XM_011511730.1:c.68994T>C (TTN) XP_011510032.1:p.Ala22998=
XM_011511731.1:c.68853T>C (TTN) XP_011510033.1:p.Ala22951=
XM_017004819.1:c.94896T>C (TTN) XP_016860308.1:p.Ala31632=
XM_017004820.1:c.90294T>C (TTN) XP_016860309.1:p.Ala30098=
XM_017004821.1:c.90291T>C (TTN) XP_016860310.1:p.Ala30097=
XM_017004822.1:c.87333T>C (TTN) XP_016860311.1:p.Ala29111=
XM_017004823.1:c.68949T>C (TTN) XP_016860312.1:p.Ala22983=
XM_024453094.1:c.90444T>C (TTN) XP_024308862.1:p.Ala30148=
XM_024453095.1:c.90441T>C (TTN) XP_024308863.1:p.Ala30147=
XM_024453096.1:c.89874T>C (TTN) XP_024308864.1:p.Ala29958=
XM_024453097.1:c.87216T>C (TTN) XP_024308865.1:p.Ala29072=
XM_024453098.1:c.87135T>C (TTN) XP_024308866.1:p.Ala29045=
XM_024453099.1:c.68898T>C (TTN) XP_024308867.1:p.Ala22966=
XM_024453100.1:c.58752T>C (TTN) XP_024308868.1:p.Ala19584=