Canonical Allele Identifier: CA430241841

Linked Data

dbSNP Id: rs1696047229
MyVariant Identifiers: chr2:g.179409097A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544370A>G , CM000664.2:g.178544370A>G GRCh38
NC_000002.11:g.179409097A>G , CM000664.1:g.179409097A>G GRCh37
NC_000002.10:g.179117343A>G NCBI36
NG_011618.3:g.291433T>C , LRG_391:g.291433T>C
NG_051363.1:g.26544A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.88155T>C (TTN) ENSP00000343764.6:p.Thr29385=
ENST00000342175.11:c.69240T>C (TTN) ENSP00000340554.6:p.Thr23080=
ENST00000359218.10:c.69039T>C (TTN) ENSP00000352154.5:p.Thr23013=
ENST00000342175.10:c.69240T>C (TTN) ENSP00000340554.6:p.Thr23080=
ENST00000342992.10:c.88155T>C (TTN) ENSP00000343764.6:p.Thr29385=
ENST00000359218.9:c.69039T>C (TTN) ENSP00000352154.5:p.Thr23013=
ENST00000460472.6:c.68664T>C (TTN) ENSP00000434586.1:p.Thr22888=
ENST00000589042.5:c.95859T>C (TTN) MANE Select ENSP00000467141.1:p.Thr31953=
ENST00000591111.5:c.90936T>C (TTN) ENSP00000465570.1:p.Thr30312=
ENST00000615779.4:c.90936T>C (TTN) ENSP00000483597.1:p.Thr30312=
NM_001256850.1:c.90936T>C (TTN) NP_001243779.1:p.Thr30312=
NM_001267550.2:c.95859T>C (TTN) MANE Select NP_001254479.2:p.Thr31953=
NM_003319.4:c.68664T>C (TTN) NP_003310.4:p.Thr22888=
NM_133378.4:c.88155T>C (TTN) NP_596869.4:p.Thr29385=
NM_133432.3:c.69039T>C (TTN) NP_597676.3:p.Thr23013=
NM_133437.4:c.69240T>C (TTN) NP_597681.4:p.Thr23080=
NR_038271.1:n.446+20734A>G (TTN-AS1)
NR_038272.1:n.2043+2009A>G (TTN-AS1)
XM_011511729.1:c.94956T>C (TTN) XP_011510031.1:p.Thr31652=
XM_011511730.1:c.68850T>C (TTN) XP_011510032.1:p.Thr22950=
XM_011511731.1:c.68709T>C (TTN) XP_011510033.1:p.Thr22903=
XM_017004819.1:c.94752T>C (TTN) XP_016860308.1:p.Thr31584=
XM_017004820.1:c.90150T>C (TTN) XP_016860309.1:p.Thr30050=
XM_017004821.1:c.90147T>C (TTN) XP_016860310.1:p.Thr30049=
XM_017004822.1:c.87189T>C (TTN) XP_016860311.1:p.Thr29063=
XM_017004823.1:c.68805T>C (TTN) XP_016860312.1:p.Thr22935=
XM_024453094.1:c.90300T>C (TTN) XP_024308862.1:p.Thr30100=
XM_024453095.1:c.90297T>C (TTN) XP_024308863.1:p.Thr30099=
XM_024453096.1:c.89730T>C (TTN) XP_024308864.1:p.Thr29910=
XM_024453097.1:c.87072T>C (TTN) XP_024308865.1:p.Thr29024=
XM_024453098.1:c.86991T>C (TTN) XP_024308866.1:p.Thr28997=
XM_024453099.1:c.68754T>C (TTN) XP_024308867.1:p.Thr22918=
XM_024453100.1:c.58608T>C (TTN) XP_024308868.1:p.Thr19536=