Canonical Allele Identifier: CA430241738

Linked Data

MyVariant Identifiers: chr2:g.179409055A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544328A>G , CM000664.2:g.178544328A>G GRCh38
NC_000002.11:g.179409055A>G , CM000664.1:g.179409055A>G GRCh37
NC_000002.10:g.179117301A>G NCBI36
NG_011618.3:g.291475T>C , LRG_391:g.291475T>C
NG_051363.1:g.26502A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88197T>C (TTN) ENSP00000343764.6:p.Asn29399=
ENST00000342175.11:c.69282T>C (TTN) ENSP00000340554.6:p.Asn23094=
ENST00000359218.10:c.69081T>C (TTN) ENSP00000352154.5:p.Asn23027=
ENST00000342175.10:c.69282T>C (TTN) ENSP00000340554.6:p.Asn23094=
ENST00000342992.10:c.88197T>C (TTN) ENSP00000343764.6:p.Asn29399=
ENST00000359218.9:c.69081T>C (TTN) ENSP00000352154.5:p.Asn23027=
ENST00000460472.6:c.68706T>C (TTN) ENSP00000434586.1:p.Asn22902=
ENST00000589042.5:c.95901T>C (TTN) MANE Select ENSP00000467141.1:p.Asn31967=
ENST00000591111.5:c.90978T>C (TTN) ENSP00000465570.1:p.Asn30326=
ENST00000615779.4:c.90978T>C (TTN) ENSP00000483597.1:p.Asn30326=
NM_001256850.1:c.90978T>C (TTN) NP_001243779.1:p.Asn30326=
NM_001267550.2:c.95901T>C (TTN) MANE Select NP_001254479.2:p.Asn31967=
NM_003319.4:c.68706T>C (TTN) NP_003310.4:p.Asn22902=
NM_133378.4:c.88197T>C (TTN) NP_596869.4:p.Asn29399=
NM_133432.3:c.69081T>C (TTN) NP_597676.3:p.Asn23027=
NM_133437.4:c.69282T>C (TTN) NP_597681.4:p.Asn23094=
NR_038271.1:n.446+20692A>G (TTN-AS1)
NR_038272.1:n.2043+1967A>G (TTN-AS1)
XM_011511729.1:c.94998T>C (TTN) XP_011510031.1:p.Asn31666=
XM_011511730.1:c.68892T>C (TTN) XP_011510032.1:p.Asn22964=
XM_011511731.1:c.68751T>C (TTN) XP_011510033.1:p.Asn22917=
XM_017004819.1:c.94794T>C (TTN) XP_016860308.1:p.Asn31598=
XM_017004820.1:c.90192T>C (TTN) XP_016860309.1:p.Asn30064=
XM_017004821.1:c.90189T>C (TTN) XP_016860310.1:p.Asn30063=
XM_017004822.1:c.87231T>C (TTN) XP_016860311.1:p.Asn29077=
XM_017004823.1:c.68847T>C (TTN) XP_016860312.1:p.Asn22949=
XM_024453094.1:c.90342T>C (TTN) XP_024308862.1:p.Asn30114=
XM_024453095.1:c.90339T>C (TTN) XP_024308863.1:p.Asn30113=
XM_024453096.1:c.89772T>C (TTN) XP_024308864.1:p.Asn29924=
XM_024453097.1:c.87114T>C (TTN) XP_024308865.1:p.Asn29038=
XM_024453098.1:c.87033T>C (TTN) XP_024308866.1:p.Asn29011=
XM_024453099.1:c.68796T>C (TTN) XP_024308867.1:p.Asn22932=
XM_024453100.1:c.58650T>C (TTN) XP_024308868.1:p.Asn19550=