Canonical Allele Identifier: CA430274645

Linked Data

MyVariant Identifiers: chr2:g.179482947A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178618220A>C , CM000664.2:g.178618220A>C GRCh38
NC_000002.11:g.179482947A>C , CM000664.1:g.179482947A>C GRCh37
NC_000002.10:g.179191192A>C NCBI36
NG_011618.3:g.217583T>G , LRG_391:g.217583T>G
NG_051363.1:g.100394A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.39534T>G (TTN) ENSP00000343764.6:p.Thr13178=
ENST00000342175.11:c.20619T>G (TTN) ENSP00000340554.6:p.Thr6873=
ENST00000359218.10:c.20418T>G (TTN) ENSP00000352154.5:p.Thr6806=
ENST00000342175.10:c.20619T>G (TTN) ENSP00000340554.6:p.Thr6873=
ENST00000342992.10:c.39534T>G (TTN) ENSP00000343764.6:p.Thr13178=
ENST00000359218.9:c.20418T>G (TTN) ENSP00000352154.5:p.Thr6806=
ENST00000460472.6:c.20043T>G (TTN) ENSP00000434586.1:p.Thr6681=
ENST00000589042.5:c.47238T>G (TTN) MANE Select ENSP00000467141.1:p.Thr15746=
ENST00000591111.5:c.42315T>G (TTN) ENSP00000465570.1:p.Thr14105=
ENST00000615779.4:c.42315T>G (TTN) ENSP00000483597.1:p.Thr14105=
NM_001256850.1:c.42315T>G (TTN) NP_001243779.1:p.Thr14105=
NM_001267550.2:c.47238T>G (TTN) MANE Select NP_001254479.2:p.Thr15746=
NM_003319.4:c.20043T>G (TTN) NP_003310.4:p.Thr6681=
NM_133378.4:c.39534T>G (TTN) NP_596869.4:p.Thr13178=
NM_133432.3:c.20418T>G (TTN) NP_597676.3:p.Thr6806=
NM_133437.4:c.20619T>G (TTN) NP_597681.4:p.Thr6873=
NR_038271.1:n.1605-1533A>C (TTN-AS1)
XM_011511729.1:c.46335T>G (TTN) XP_011510031.1:p.Thr15445=
XM_011511730.1:c.20229T>G (TTN) XP_011510032.1:p.Thr6743=
XM_011511731.1:c.20088T>G (TTN) XP_011510033.1:p.Thr6696=
XM_017004819.1:c.46131T>G (TTN) XP_016860308.1:p.Thr15377=
XM_017004820.1:c.41529T>G (TTN) XP_016860309.1:p.Thr13843=
XM_017004821.1:c.41526T>G (TTN) XP_016860310.1:p.Thr13842=
XM_017004822.1:c.38568T>G (TTN) XP_016860311.1:p.Thr12856=
XM_017004823.1:c.20184T>G (TTN) XP_016860312.1:p.Thr6728=
XM_024453094.1:c.41679T>G (TTN) XP_024308862.1:p.Thr13893=
XM_024453095.1:c.41676T>G (TTN) XP_024308863.1:p.Thr13892=
XM_024453096.1:c.41109T>G (TTN) XP_024308864.1:p.Thr13703=
XM_024453097.1:c.38451T>G (TTN) XP_024308865.1:p.Thr12817=
XM_024453098.1:c.38370T>G (TTN) XP_024308866.1:p.Thr12790=
XM_024453099.1:c.20133T>G (TTN) XP_024308867.1:p.Thr6711=
XM_024453100.1:c.9987T>G (TTN) XP_024308868.1:p.Thr3329=