Canonical Allele Identifier: CA430235614

Linked Data

MyVariant Identifiers: chr2:g.179395358T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530631T>C , CM000664.2:g.178530631T>C GRCh38
NC_000002.11:g.179395358T>C , CM000664.1:g.179395358T>C GRCh37
NC_000002.10:g.179103604T>C NCBI36
NG_011618.3:g.305172A>G , LRG_391:g.305172A>G
NG_051363.1:g.12805T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98280A>G (TTN) ENSP00000343764.6:p.Glu32760=
ENST00000342175.11:c.79365A>G (TTN) ENSP00000340554.6:p.Glu26455=
ENST00000359218.10:c.79164A>G (TTN) ENSP00000352154.5:p.Glu26388=
ENST00000342175.10:c.79365A>G (TTN) ENSP00000340554.6:p.Glu26455=
ENST00000342992.10:c.98280A>G (TTN) ENSP00000343764.6:p.Glu32760=
ENST00000359218.9:c.79164A>G (TTN) ENSP00000352154.5:p.Glu26388=
ENST00000460472.6:c.78789A>G (TTN) ENSP00000434586.1:p.Glu26263=
ENST00000589042.5:c.105984A>G (TTN) MANE Select ENSP00000467141.1:p.Glu35328=
ENST00000591111.5:c.101061A>G (TTN) ENSP00000465570.1:p.Glu33687=
ENST00000615779.4:c.101061A>G (TTN) ENSP00000483597.1:p.Glu33687=
NM_001256850.1:c.101061A>G (TTN) NP_001243779.1:p.Glu33687=
NM_001267550.2:c.105984A>G (TTN) MANE Select NP_001254479.2:p.Glu35328=
NM_003319.4:c.78789A>G (TTN) NP_003310.4:p.Glu26263=
NM_133378.4:c.98280A>G (TTN) NP_596869.4:p.Glu32760=
NM_133432.3:c.79164A>G (TTN) NP_597676.3:p.Glu26388=
NM_133437.4:c.79365A>G (TTN) NP_597681.4:p.Glu26455=
NR_038271.1:n.446+6995T>C (TTN-AS1)
NR_038272.1:n.220-5101T>C (TTN-AS1)
XM_011511729.1:c.105081A>G (TTN) XP_011510031.1:p.Glu35027=
XM_011511730.1:c.78975A>G (TTN) XP_011510032.1:p.Glu26325=
XM_011511731.1:c.78834A>G (TTN) XP_011510033.1:p.Glu26278=
XM_017004819.1:c.104877A>G (TTN) XP_016860308.1:p.Glu34959=
XM_017004820.1:c.100275A>G (TTN) XP_016860309.1:p.Glu33425=
XM_017004821.1:c.100272A>G (TTN) XP_016860310.1:p.Glu33424=
XM_017004822.1:c.97314A>G (TTN) XP_016860311.1:p.Glu32438=
XM_017004823.1:c.78930A>G (TTN) XP_016860312.1:p.Glu26310=
XM_024453094.1:c.100425A>G (TTN) XP_024308862.1:p.Glu33475=
XM_024453095.1:c.100422A>G (TTN) XP_024308863.1:p.Glu33474=
XM_024453096.1:c.99855A>G (TTN) XP_024308864.1:p.Glu33285=
XM_024453097.1:c.97197A>G (TTN) XP_024308865.1:p.Glu32399=
XM_024453098.1:c.97116A>G (TTN) XP_024308866.1:p.Glu32372=
XM_024453099.1:c.78879A>G (TTN) XP_024308867.1:p.Glu26293=
XM_024453100.1:c.68733A>G (TTN) XP_024308868.1:p.Glu22911=