Canonical Allele Identifier: CA430235103

Linked Data

MyVariant Identifiers: chr2:g.179395232G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530505G>T , CM000664.2:g.178530505G>T GRCh38
NC_000002.11:g.179395232G>T , CM000664.1:g.179395232G>T GRCh37
NC_000002.10:g.179103478G>T NCBI36
NG_011618.3:g.305298C>A , LRG_391:g.305298C>A
NG_051363.1:g.12679G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98406C>A (TTN) ENSP00000343764.6:p.Thr32802=
ENST00000342175.11:c.79491C>A (TTN) ENSP00000340554.6:p.Thr26497=
ENST00000359218.10:c.79290C>A (TTN) ENSP00000352154.5:p.Thr26430=
ENST00000342175.10:c.79491C>A (TTN) ENSP00000340554.6:p.Thr26497=
ENST00000342992.10:c.98406C>A (TTN) ENSP00000343764.6:p.Thr32802=
ENST00000359218.9:c.79290C>A (TTN) ENSP00000352154.5:p.Thr26430=
ENST00000460472.6:c.78915C>A (TTN) ENSP00000434586.1:p.Thr26305=
ENST00000589042.5:c.106110C>A (TTN) MANE Select ENSP00000467141.1:p.Thr35370=
ENST00000591111.5:c.101187C>A (TTN) ENSP00000465570.1:p.Thr33729=
ENST00000615779.4:c.101187C>A (TTN) ENSP00000483597.1:p.Thr33729=
NM_001256850.1:c.101187C>A (TTN) NP_001243779.1:p.Thr33729=
NM_001267550.2:c.106110C>A (TTN) MANE Select NP_001254479.2:p.Thr35370=
NM_003319.4:c.78915C>A (TTN) NP_003310.4:p.Thr26305=
NM_133378.4:c.98406C>A (TTN) NP_596869.4:p.Thr32802=
NM_133432.3:c.79290C>A (TTN) NP_597676.3:p.Thr26430=
NM_133437.4:c.79491C>A (TTN) NP_597681.4:p.Thr26497=
NR_038271.1:n.446+6869G>T (TTN-AS1)
NR_038272.1:n.220-5227G>T (TTN-AS1)
XM_011511729.1:c.105207C>A (TTN) XP_011510031.1:p.Thr35069=
XM_011511730.1:c.79101C>A (TTN) XP_011510032.1:p.Thr26367=
XM_011511731.1:c.78960C>A (TTN) XP_011510033.1:p.Thr26320=
XM_017004819.1:c.105003C>A (TTN) XP_016860308.1:p.Thr35001=
XM_017004820.1:c.100401C>A (TTN) XP_016860309.1:p.Thr33467=
XM_017004821.1:c.100398C>A (TTN) XP_016860310.1:p.Thr33466=
XM_017004822.1:c.97440C>A (TTN) XP_016860311.1:p.Thr32480=
XM_017004823.1:c.79056C>A (TTN) XP_016860312.1:p.Thr26352=
XM_024453094.1:c.100551C>A (TTN) XP_024308862.1:p.Thr33517=
XM_024453095.1:c.100548C>A (TTN) XP_024308863.1:p.Thr33516=
XM_024453096.1:c.99981C>A (TTN) XP_024308864.1:p.Thr33327=
XM_024453097.1:c.97323C>A (TTN) XP_024308865.1:p.Thr32441=
XM_024453098.1:c.97242C>A (TTN) XP_024308866.1:p.Thr32414=
XM_024453099.1:c.79005C>A (TTN) XP_024308867.1:p.Thr26335=
XM_024453100.1:c.68859C>A (TTN) XP_024308868.1:p.Thr22953=