Canonical Allele Identifier: CA430235590

Linked Data

MyVariant Identifiers: chr2:g.179395352C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530625C>A , CM000664.2:g.178530625C>A GRCh38
NC_000002.11:g.179395352C>A , CM000664.1:g.179395352C>A GRCh37
NC_000002.10:g.179103598C>A NCBI36
NG_011618.3:g.305178G>T , LRG_391:g.305178G>T
NG_051363.1:g.12799C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98286G>T (TTN) ENSP00000343764.6:p.Gly32762=
ENST00000342175.11:c.79371G>T (TTN) ENSP00000340554.6:p.Gly26457=
ENST00000359218.10:c.79170G>T (TTN) ENSP00000352154.5:p.Gly26390=
ENST00000342175.10:c.79371G>T (TTN) ENSP00000340554.6:p.Gly26457=
ENST00000342992.10:c.98286G>T (TTN) ENSP00000343764.6:p.Gly32762=
ENST00000359218.9:c.79170G>T (TTN) ENSP00000352154.5:p.Gly26390=
ENST00000460472.6:c.78795G>T (TTN) ENSP00000434586.1:p.Gly26265=
ENST00000589042.5:c.105990G>T (TTN) MANE Select ENSP00000467141.1:p.Gly35330=
ENST00000591111.5:c.101067G>T (TTN) ENSP00000465570.1:p.Gly33689=
ENST00000615779.4:c.101067G>T (TTN) ENSP00000483597.1:p.Gly33689=
NM_001256850.1:c.101067G>T (TTN) NP_001243779.1:p.Gly33689=
NM_001267550.2:c.105990G>T (TTN) MANE Select NP_001254479.2:p.Gly35330=
NM_003319.4:c.78795G>T (TTN) NP_003310.4:p.Gly26265=
NM_133378.4:c.98286G>T (TTN) NP_596869.4:p.Gly32762=
NM_133432.3:c.79170G>T (TTN) NP_597676.3:p.Gly26390=
NM_133437.4:c.79371G>T (TTN) NP_597681.4:p.Gly26457=
NR_038271.1:n.446+6989C>A (TTN-AS1)
NR_038272.1:n.220-5107C>A (TTN-AS1)
XM_011511729.1:c.105087G>T (TTN) XP_011510031.1:p.Gly35029=
XM_011511730.1:c.78981G>T (TTN) XP_011510032.1:p.Gly26327=
XM_011511731.1:c.78840G>T (TTN) XP_011510033.1:p.Gly26280=
XM_017004819.1:c.104883G>T (TTN) XP_016860308.1:p.Gly34961=
XM_017004820.1:c.100281G>T (TTN) XP_016860309.1:p.Gly33427=
XM_017004821.1:c.100278G>T (TTN) XP_016860310.1:p.Gly33426=
XM_017004822.1:c.97320G>T (TTN) XP_016860311.1:p.Gly32440=
XM_017004823.1:c.78936G>T (TTN) XP_016860312.1:p.Gly26312=
XM_024453094.1:c.100431G>T (TTN) XP_024308862.1:p.Gly33477=
XM_024453095.1:c.100428G>T (TTN) XP_024308863.1:p.Gly33476=
XM_024453096.1:c.99861G>T (TTN) XP_024308864.1:p.Gly33287=
XM_024453097.1:c.97203G>T (TTN) XP_024308865.1:p.Gly32401=
XM_024453098.1:c.97122G>T (TTN) XP_024308866.1:p.Gly32374=
XM_024453099.1:c.78885G>T (TTN) XP_024308867.1:p.Gly26295=
XM_024453100.1:c.68739G>T (TTN) XP_024308868.1:p.Gly22913=