Canonical Allele Identifier: CA430235092

Linked Data

MyVariant Identifiers: chr2:g.179395226T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530499T>C , CM000664.2:g.178530499T>C GRCh38
NC_000002.11:g.179395226T>C , CM000664.1:g.179395226T>C GRCh37
NC_000002.10:g.179103472T>C NCBI36
NG_011618.3:g.305304A>G , LRG_391:g.305304A>G
NG_051363.1:g.12673T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98412A>G (TTN) ENSP00000343764.6:p.Leu32804=
ENST00000342175.11:c.79497A>G (TTN) ENSP00000340554.6:p.Leu26499=
ENST00000359218.10:c.79296A>G (TTN) ENSP00000352154.5:p.Leu26432=
ENST00000342175.10:c.79497A>G (TTN) ENSP00000340554.6:p.Leu26499=
ENST00000342992.10:c.98412A>G (TTN) ENSP00000343764.6:p.Leu32804=
ENST00000359218.9:c.79296A>G (TTN) ENSP00000352154.5:p.Leu26432=
ENST00000460472.6:c.78921A>G (TTN) ENSP00000434586.1:p.Leu26307=
ENST00000589042.5:c.106116A>G (TTN) MANE Select ENSP00000467141.1:p.Leu35372=
ENST00000591111.5:c.101193A>G (TTN) ENSP00000465570.1:p.Leu33731=
ENST00000615779.4:c.101193A>G (TTN) ENSP00000483597.1:p.Leu33731=
NM_001256850.1:c.101193A>G (TTN) NP_001243779.1:p.Leu33731=
NM_001267550.2:c.106116A>G (TTN) MANE Select NP_001254479.2:p.Leu35372=
NM_003319.4:c.78921A>G (TTN) NP_003310.4:p.Leu26307=
NM_133378.4:c.98412A>G (TTN) NP_596869.4:p.Leu32804=
NM_133432.3:c.79296A>G (TTN) NP_597676.3:p.Leu26432=
NM_133437.4:c.79497A>G (TTN) NP_597681.4:p.Leu26499=
NR_038271.1:n.446+6863T>C (TTN-AS1)
NR_038272.1:n.220-5233T>C (TTN-AS1)
XM_011511729.1:c.105213A>G (TTN) XP_011510031.1:p.Leu35071=
XM_011511730.1:c.79107A>G (TTN) XP_011510032.1:p.Leu26369=
XM_011511731.1:c.78966A>G (TTN) XP_011510033.1:p.Leu26322=
XM_017004819.1:c.105009A>G (TTN) XP_016860308.1:p.Leu35003=
XM_017004820.1:c.100407A>G (TTN) XP_016860309.1:p.Leu33469=
XM_017004821.1:c.100404A>G (TTN) XP_016860310.1:p.Leu33468=
XM_017004822.1:c.97446A>G (TTN) XP_016860311.1:p.Leu32482=
XM_017004823.1:c.79062A>G (TTN) XP_016860312.1:p.Leu26354=
XM_024453094.1:c.100557A>G (TTN) XP_024308862.1:p.Leu33519=
XM_024453095.1:c.100554A>G (TTN) XP_024308863.1:p.Leu33518=
XM_024453096.1:c.99987A>G (TTN) XP_024308864.1:p.Leu33329=
XM_024453097.1:c.97329A>G (TTN) XP_024308865.1:p.Leu32443=
XM_024453098.1:c.97248A>G (TTN) XP_024308866.1:p.Leu32416=
XM_024453099.1:c.79011A>G (TTN) XP_024308867.1:p.Leu26337=
XM_024453100.1:c.68865A>G (TTN) XP_024308868.1:p.Leu22955=