Canonical Allele Identifier: CA430235507

Linked Data

MyVariant Identifiers: chr2:g.179396590A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178531863A>G , CM000664.2:g.178531863A>G GRCh38
NC_000002.11:g.179396590A>G , CM000664.1:g.179396590A>G GRCh37
NC_000002.10:g.179104836A>G NCBI36
NG_011618.3:g.303940T>C , LRG_391:g.303940T>C
NG_051363.1:g.14037A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.97048T>C (TTN) ENSP00000343764.6:p.Leu32350=
ENST00000342175.11:c.78133T>C (TTN) ENSP00000340554.6:p.Leu26045=
ENST00000359218.10:c.77932T>C (TTN) ENSP00000352154.5:p.Leu25978=
ENST00000342175.10:c.78133T>C (TTN) ENSP00000340554.6:p.Leu26045=
ENST00000342992.10:c.97048T>C (TTN) ENSP00000343764.6:p.Leu32350=
ENST00000359218.9:c.77932T>C (TTN) ENSP00000352154.5:p.Leu25978=
ENST00000460472.6:c.77557T>C (TTN) ENSP00000434586.1:p.Leu25853=
ENST00000589042.5:c.104752T>C (TTN) MANE Select ENSP00000467141.1:p.Leu34918=
ENST00000591111.5:c.99829T>C (TTN) ENSP00000465570.1:p.Leu33277=
ENST00000615779.4:c.99829T>C (TTN) ENSP00000483597.1:p.Leu33277=
NM_001256850.1:c.99829T>C (TTN) NP_001243779.1:p.Leu33277=
NM_001267550.2:c.104752T>C (TTN) MANE Select NP_001254479.2:p.Leu34918=
NM_003319.4:c.77557T>C (TTN) NP_003310.4:p.Leu25853=
NM_133378.4:c.97048T>C (TTN) NP_596869.4:p.Leu32350=
NM_133432.3:c.77932T>C (TTN) NP_597676.3:p.Leu25978=
NM_133437.4:c.78133T>C (TTN) NP_597681.4:p.Leu26045=
NR_038271.1:n.446+8227A>G (TTN-AS1)
NR_038272.1:n.220-3869A>G (TTN-AS1)
XM_011511729.1:c.103849T>C (TTN) XP_011510031.1:p.Leu34617=
XM_011511730.1:c.77743T>C (TTN) XP_011510032.1:p.Leu25915=
XM_011511731.1:c.77602T>C (TTN) XP_011510033.1:p.Leu25868=
XM_017004819.1:c.103645T>C (TTN) XP_016860308.1:p.Leu34549=
XM_017004820.1:c.99043T>C (TTN) XP_016860309.1:p.Leu33015=
XM_017004821.1:c.99040T>C (TTN) XP_016860310.1:p.Leu33014=
XM_017004822.1:c.96082T>C (TTN) XP_016860311.1:p.Leu32028=
XM_017004823.1:c.77698T>C (TTN) XP_016860312.1:p.Leu25900=
XM_024453094.1:c.99193T>C (TTN) XP_024308862.1:p.Leu33065=
XM_024453095.1:c.99190T>C (TTN) XP_024308863.1:p.Leu33064=
XM_024453096.1:c.98623T>C (TTN) XP_024308864.1:p.Leu32875=
XM_024453097.1:c.95965T>C (TTN) XP_024308865.1:p.Leu31989=
XM_024453098.1:c.95884T>C (TTN) XP_024308866.1:p.Leu31962=
XM_024453099.1:c.77647T>C (TTN) XP_024308867.1:p.Leu25883=
XM_024453100.1:c.67501T>C (TTN) XP_024308868.1:p.Leu22501=