Canonical Allele Identifier: CA430241656

Linked Data

MyVariant Identifiers: chr2:g.179409031A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544304A>C , CM000664.2:g.178544304A>C GRCh38
NC_000002.11:g.179409031A>C , CM000664.1:g.179409031A>C GRCh37
NC_000002.10:g.179117277A>C NCBI36
NG_011618.3:g.291499T>G , LRG_391:g.291499T>G
NG_051363.1:g.26478A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.88221T>G (TTN) ENSP00000343764.6:p.Leu29407=
ENST00000342175.11:c.69306T>G (TTN) ENSP00000340554.6:p.Leu23102=
ENST00000359218.10:c.69105T>G (TTN) ENSP00000352154.5:p.Leu23035=
ENST00000342175.10:c.69306T>G (TTN) ENSP00000340554.6:p.Leu23102=
ENST00000342992.10:c.88221T>G (TTN) ENSP00000343764.6:p.Leu29407=
ENST00000359218.9:c.69105T>G (TTN) ENSP00000352154.5:p.Leu23035=
ENST00000460472.6:c.68730T>G (TTN) ENSP00000434586.1:p.Leu22910=
ENST00000589042.5:c.95925T>G (TTN) MANE Select ENSP00000467141.1:p.Leu31975=
ENST00000591111.5:c.91002T>G (TTN) ENSP00000465570.1:p.Leu30334=
ENST00000615779.4:c.91002T>G (TTN) ENSP00000483597.1:p.Leu30334=
NM_001256850.1:c.91002T>G (TTN) NP_001243779.1:p.Leu30334=
NM_001267550.2:c.95925T>G (TTN) MANE Select NP_001254479.2:p.Leu31975=
NM_003319.4:c.68730T>G (TTN) NP_003310.4:p.Leu22910=
NM_133378.4:c.88221T>G (TTN) NP_596869.4:p.Leu29407=
NM_133432.3:c.69105T>G (TTN) NP_597676.3:p.Leu23035=
NM_133437.4:c.69306T>G (TTN) NP_597681.4:p.Leu23102=
NR_038271.1:n.446+20668A>C (TTN-AS1)
NR_038272.1:n.2043+1943A>C (TTN-AS1)
XM_011511729.1:c.95022T>G (TTN) XP_011510031.1:p.Leu31674=
XM_011511730.1:c.68916T>G (TTN) XP_011510032.1:p.Leu22972=
XM_011511731.1:c.68775T>G (TTN) XP_011510033.1:p.Leu22925=
XM_017004819.1:c.94818T>G (TTN) XP_016860308.1:p.Leu31606=
XM_017004820.1:c.90216T>G (TTN) XP_016860309.1:p.Leu30072=
XM_017004821.1:c.90213T>G (TTN) XP_016860310.1:p.Leu30071=
XM_017004822.1:c.87255T>G (TTN) XP_016860311.1:p.Leu29085=
XM_017004823.1:c.68871T>G (TTN) XP_016860312.1:p.Leu22957=
XM_024453094.1:c.90366T>G (TTN) XP_024308862.1:p.Leu30122=
XM_024453095.1:c.90363T>G (TTN) XP_024308863.1:p.Leu30121=
XM_024453096.1:c.89796T>G (TTN) XP_024308864.1:p.Leu29932=
XM_024453097.1:c.87138T>G (TTN) XP_024308865.1:p.Leu29046=
XM_024453098.1:c.87057T>G (TTN) XP_024308866.1:p.Leu29019=
XM_024453099.1:c.68820T>G (TTN) XP_024308867.1:p.Leu22940=
XM_024453100.1:c.58674T>G (TTN) XP_024308868.1:p.Leu19558=