Canonical Allele Identifier: CA430235829

Linked Data

MyVariant Identifiers: chr2:g.179396798A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532071A>T , CM000664.2:g.178532071A>T GRCh38
NC_000002.11:g.179396798A>T , CM000664.1:g.179396798A>T GRCh37
NC_000002.10:g.179105044A>T NCBI36
NG_011618.3:g.303732T>A , LRG_391:g.303732T>A
NG_051363.1:g.14245A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96840T>A (TTN) ENSP00000343764.6:p.Ile32280=
ENST00000342175.11:c.77925T>A (TTN) ENSP00000340554.6:p.Ile25975=
ENST00000359218.10:c.77724T>A (TTN) ENSP00000352154.5:p.Ile25908=
ENST00000342175.10:c.77925T>A (TTN) ENSP00000340554.6:p.Ile25975=
ENST00000342992.10:c.96840T>A (TTN) ENSP00000343764.6:p.Ile32280=
ENST00000359218.9:c.77724T>A (TTN) ENSP00000352154.5:p.Ile25908=
ENST00000460472.6:c.77349T>A (TTN) ENSP00000434586.1:p.Ile25783=
ENST00000589042.5:c.104544T>A (TTN) MANE Select ENSP00000467141.1:p.Ile34848=
ENST00000591111.5:c.99621T>A (TTN) ENSP00000465570.1:p.Ile33207=
ENST00000615779.4:c.99621T>A (TTN) ENSP00000483597.1:p.Ile33207=
NM_001256850.1:c.99621T>A (TTN) NP_001243779.1:p.Ile33207=
NM_001267550.2:c.104544T>A (TTN) MANE Select NP_001254479.2:p.Ile34848=
NM_003319.4:c.77349T>A (TTN) NP_003310.4:p.Ile25783=
NM_133378.4:c.96840T>A (TTN) NP_596869.4:p.Ile32280=
NM_133432.3:c.77724T>A (TTN) NP_597676.3:p.Ile25908=
NM_133437.4:c.77925T>A (TTN) NP_597681.4:p.Ile25975=
NR_038271.1:n.446+8435A>T (TTN-AS1)
NR_038272.1:n.220-3661A>T (TTN-AS1)
XM_011511729.1:c.103641T>A (TTN) XP_011510031.1:p.Ile34547=
XM_011511730.1:c.77535T>A (TTN) XP_011510032.1:p.Ile25845=
XM_011511731.1:c.77394T>A (TTN) XP_011510033.1:p.Ile25798=
XM_017004819.1:c.103437T>A (TTN) XP_016860308.1:p.Ile34479=
XM_017004820.1:c.98835T>A (TTN) XP_016860309.1:p.Ile32945=
XM_017004821.1:c.98832T>A (TTN) XP_016860310.1:p.Ile32944=
XM_017004822.1:c.95874T>A (TTN) XP_016860311.1:p.Ile31958=
XM_017004823.1:c.77490T>A (TTN) XP_016860312.1:p.Ile25830=
XM_024453094.1:c.98985T>A (TTN) XP_024308862.1:p.Ile32995=
XM_024453095.1:c.98982T>A (TTN) XP_024308863.1:p.Ile32994=
XM_024453096.1:c.98415T>A (TTN) XP_024308864.1:p.Ile32805=
XM_024453097.1:c.95757T>A (TTN) XP_024308865.1:p.Ile31919=
XM_024453098.1:c.95676T>A (TTN) XP_024308866.1:p.Ile31892=
XM_024453099.1:c.77439T>A (TTN) XP_024308867.1:p.Ile25813=
XM_024453100.1:c.67293T>A (TTN) XP_024308868.1:p.Ile22431=