Canonical Allele Identifier: CA430094025

Linked Data

MyVariant Identifiers: chr2:g.179394817T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530090T>C , CM000664.2:g.178530090T>C GRCh38
NC_000002.11:g.179394817T>C , CM000664.1:g.179394817T>C GRCh37
NC_000002.10:g.179103063T>C NCBI36
NG_011618.3:g.305713A>G , LRG_391:g.305713A>G
NG_051363.1:g.12264T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98697A>G (TTN) ENSP00000343764.6:p.Lys32899=
ENST00000342175.11:c.79782A>G (TTN) ENSP00000340554.6:p.Lys26594=
ENST00000359218.10:c.79581A>G (TTN) ENSP00000352154.5:p.Lys26527=
ENST00000342175.10:c.79782A>G (TTN) ENSP00000340554.6:p.Lys26594=
ENST00000342992.10:c.98697A>G (TTN) ENSP00000343764.6:p.Lys32899=
ENST00000359218.9:c.79581A>G (TTN) ENSP00000352154.5:p.Lys26527=
ENST00000460472.6:c.79206A>G (TTN) ENSP00000434586.1:p.Lys26402=
ENST00000589042.5:c.106401A>G (TTN) MANE Select ENSP00000467141.1:p.Lys35467=
ENST00000591111.5:c.101478A>G (TTN) ENSP00000465570.1:p.Lys33826=
ENST00000615779.4:c.101478A>G (TTN) ENSP00000483597.1:p.Lys33826=
NM_001256850.1:c.101478A>G (TTN) NP_001243779.1:p.Lys33826=
NM_001267550.2:c.106401A>G (TTN) MANE Select NP_001254479.2:p.Lys35467=
NM_003319.4:c.79206A>G (TTN) NP_003310.4:p.Lys26402=
NM_133378.4:c.98697A>G (TTN) NP_596869.4:p.Lys32899=
NM_133432.3:c.79581A>G (TTN) NP_597676.3:p.Lys26527=
NM_133437.4:c.79782A>G (TTN) NP_597681.4:p.Lys26594=
NR_038271.1:n.446+6454T>C (TTN-AS1)
NR_038272.1:n.220-5642T>C (TTN-AS1)
XM_011511729.1:c.105498A>G (TTN) XP_011510031.1:p.Lys35166=
XM_011511730.1:c.79392A>G (TTN) XP_011510032.1:p.Lys26464=
XM_011511731.1:c.79251A>G (TTN) XP_011510033.1:p.Lys26417=
XM_017004819.1:c.105294A>G (TTN) XP_016860308.1:p.Lys35098=
XM_017004820.1:c.100692A>G (TTN) XP_016860309.1:p.Lys33564=
XM_017004821.1:c.100689A>G (TTN) XP_016860310.1:p.Lys33563=
XM_017004822.1:c.97731A>G (TTN) XP_016860311.1:p.Lys32577=
XM_017004823.1:c.79347A>G (TTN) XP_016860312.1:p.Lys26449=
XM_024453094.1:c.100842A>G (TTN) XP_024308862.1:p.Lys33614=
XM_024453095.1:c.100839A>G (TTN) XP_024308863.1:p.Lys33613=
XM_024453096.1:c.100272A>G (TTN) XP_024308864.1:p.Lys33424=
XM_024453097.1:c.97614A>G (TTN) XP_024308865.1:p.Lys32538=
XM_024453098.1:c.97533A>G (TTN) XP_024308866.1:p.Lys32511=
XM_024453099.1:c.79296A>G (TTN) XP_024308867.1:p.Lys26432=
XM_024453100.1:c.69150A>G (TTN) XP_024308868.1:p.Lys23050=