Canonical Allele Identifier: CA430093891

Linked Data

MyVariant Identifiers: chr2:g.179394781A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530054A>G , CM000664.2:g.178530054A>G GRCh38
NC_000002.11:g.179394781A>G , CM000664.1:g.179394781A>G GRCh37
NC_000002.10:g.179103027A>G NCBI36
NG_011618.3:g.305749T>C , LRG_391:g.305749T>C
NG_051363.1:g.12228A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98733T>C (TTN) ENSP00000343764.6:p.Ile32911=
ENST00000342175.11:c.79818T>C (TTN) ENSP00000340554.6:p.Ile26606=
ENST00000359218.10:c.79617T>C (TTN) ENSP00000352154.5:p.Ile26539=
ENST00000342175.10:c.79818T>C (TTN) ENSP00000340554.6:p.Ile26606=
ENST00000342992.10:c.98733T>C (TTN) ENSP00000343764.6:p.Ile32911=
ENST00000359218.9:c.79617T>C (TTN) ENSP00000352154.5:p.Ile26539=
ENST00000460472.6:c.79242T>C (TTN) ENSP00000434586.1:p.Ile26414=
ENST00000589042.5:c.106437T>C (TTN) MANE Select ENSP00000467141.1:p.Ile35479=
ENST00000591111.5:c.101514T>C (TTN) ENSP00000465570.1:p.Ile33838=
ENST00000615779.4:c.101514T>C (TTN) ENSP00000483597.1:p.Ile33838=
NM_001256850.1:c.101514T>C (TTN) NP_001243779.1:p.Ile33838=
NM_001267550.2:c.106437T>C (TTN) MANE Select NP_001254479.2:p.Ile35479=
NM_003319.4:c.79242T>C (TTN) NP_003310.4:p.Ile26414=
NM_133378.4:c.98733T>C (TTN) NP_596869.4:p.Ile32911=
NM_133432.3:c.79617T>C (TTN) NP_597676.3:p.Ile26539=
NM_133437.4:c.79818T>C (TTN) NP_597681.4:p.Ile26606=
NR_038271.1:n.446+6418A>G (TTN-AS1)
NR_038272.1:n.220-5678A>G (TTN-AS1)
XM_011511729.1:c.105534T>C (TTN) XP_011510031.1:p.Ile35178=
XM_011511730.1:c.79428T>C (TTN) XP_011510032.1:p.Ile26476=
XM_011511731.1:c.79287T>C (TTN) XP_011510033.1:p.Ile26429=
XM_017004819.1:c.105330T>C (TTN) XP_016860308.1:p.Ile35110=
XM_017004820.1:c.100728T>C (TTN) XP_016860309.1:p.Ile33576=
XM_017004821.1:c.100725T>C (TTN) XP_016860310.1:p.Ile33575=
XM_017004822.1:c.97767T>C (TTN) XP_016860311.1:p.Ile32589=
XM_017004823.1:c.79383T>C (TTN) XP_016860312.1:p.Ile26461=
XM_024453094.1:c.100878T>C (TTN) XP_024308862.1:p.Ile33626=
XM_024453095.1:c.100875T>C (TTN) XP_024308863.1:p.Ile33625=
XM_024453096.1:c.100308T>C (TTN) XP_024308864.1:p.Ile33436=
XM_024453097.1:c.97650T>C (TTN) XP_024308865.1:p.Ile32550=
XM_024453098.1:c.97569T>C (TTN) XP_024308866.1:p.Ile32523=
XM_024453099.1:c.79332T>C (TTN) XP_024308867.1:p.Ile26444=
XM_024453100.1:c.69186T>C (TTN) XP_024308868.1:p.Ile23062=