Canonical Allele Identifier: CA430242329

Linked Data

MyVariant Identifiers: chr2:g.179411343A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546616A>G , CM000664.2:g.178546616A>G GRCh38
NC_000002.11:g.179411343A>G , CM000664.1:g.179411343A>G GRCh37
NC_000002.10:g.179119589A>G NCBI36
NG_011618.3:g.289187T>C , LRG_391:g.289187T>C
NG_051363.1:g.28790A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.87108T>C (TTN) ENSP00000343764.6:p.Thr29036=
ENST00000342175.11:c.68193T>C (TTN) ENSP00000340554.6:p.Thr22731=
ENST00000359218.10:c.67992T>C (TTN) ENSP00000352154.5:p.Thr22664=
ENST00000342175.10:c.68193T>C (TTN) ENSP00000340554.6:p.Thr22731=
ENST00000342992.10:c.87108T>C (TTN) ENSP00000343764.6:p.Thr29036=
ENST00000359218.9:c.67992T>C (TTN) ENSP00000352154.5:p.Thr22664=
ENST00000460472.6:c.67617T>C (TTN) ENSP00000434586.1:p.Thr22539=
ENST00000589042.5:c.94812T>C (TTN) MANE Select ENSP00000467141.1:p.Thr31604=
ENST00000591111.5:c.89889T>C (TTN) ENSP00000465570.1:p.Thr29963=
ENST00000615779.4:c.89889T>C (TTN) ENSP00000483597.1:p.Thr29963=
NM_001256850.1:c.89889T>C (TTN) NP_001243779.1:p.Thr29963=
NM_001267550.2:c.94812T>C (TTN) MANE Select NP_001254479.2:p.Thr31604=
NM_003319.4:c.67617T>C (TTN) NP_003310.4:p.Thr22539=
NM_133378.4:c.87108T>C (TTN) NP_596869.4:p.Thr29036=
NM_133432.3:c.67992T>C (TTN) NP_597676.3:p.Thr22664=
NM_133437.4:c.68193T>C (TTN) NP_597681.4:p.Thr22731=
NR_038271.1:n.446+22980A>G (TTN-AS1)
NR_038272.1:n.2043+4255A>G (TTN-AS1)
XM_011511729.1:c.93909T>C (TTN) XP_011510031.1:p.Thr31303=
XM_011511730.1:c.67803T>C (TTN) XP_011510032.1:p.Thr22601=
XM_011511731.1:c.67662T>C (TTN) XP_011510033.1:p.Thr22554=
XM_017004819.1:c.93705T>C (TTN) XP_016860308.1:p.Thr31235=
XM_017004820.1:c.89103T>C (TTN) XP_016860309.1:p.Thr29701=
XM_017004821.1:c.89100T>C (TTN) XP_016860310.1:p.Thr29700=
XM_017004822.1:c.86142T>C (TTN) XP_016860311.1:p.Thr28714=
XM_017004823.1:c.67758T>C (TTN) XP_016860312.1:p.Thr22586=
XM_024453094.1:c.89253T>C (TTN) XP_024308862.1:p.Thr29751=
XM_024453095.1:c.89250T>C (TTN) XP_024308863.1:p.Thr29750=
XM_024453096.1:c.88683T>C (TTN) XP_024308864.1:p.Thr29561=
XM_024453097.1:c.86025T>C (TTN) XP_024308865.1:p.Thr28675=
XM_024453098.1:c.85944T>C (TTN) XP_024308866.1:p.Thr28648=
XM_024453099.1:c.67707T>C (TTN) XP_024308867.1:p.Thr22569=
XM_024453100.1:c.57561T>C (TTN) XP_024308868.1:p.Thr19187=