Canonical Allele Identifier: CA430238870

Linked Data

MyVariant Identifiers: chr2:g.179401894T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178537167T>A , CM000664.2:g.178537167T>A GRCh38
NC_000002.11:g.179401894T>A , CM000664.1:g.179401894T>A GRCh37
NC_000002.10:g.179110140T>A NCBI36
NG_011618.3:g.298636A>T , LRG_391:g.298636A>T
NG_051363.1:g.19341T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.92238A>T (TTN) ENSP00000343764.6:p.Pro30746=
ENST00000342175.11:c.73323A>T (TTN) ENSP00000340554.6:p.Pro24441=
ENST00000359218.10:c.73122A>T (TTN) ENSP00000352154.5:p.Pro24374=
ENST00000342175.10:c.73323A>T (TTN) ENSP00000340554.6:p.Pro24441=
ENST00000342992.10:c.92238A>T (TTN) ENSP00000343764.6:p.Pro30746=
ENST00000359218.9:c.73122A>T (TTN) ENSP00000352154.5:p.Pro24374=
ENST00000460472.6:c.72747A>T (TTN) ENSP00000434586.1:p.Pro24249=
ENST00000589042.5:c.99942A>T (TTN) MANE Select ENSP00000467141.1:p.Pro33314=
ENST00000591111.5:c.95019A>T (TTN) ENSP00000465570.1:p.Pro31673=
ENST00000615779.4:c.95019A>T (TTN) ENSP00000483597.1:p.Pro31673=
NM_001256850.1:c.95019A>T (TTN) NP_001243779.1:p.Pro31673=
NM_001267550.2:c.99942A>T (TTN) MANE Select NP_001254479.2:p.Pro33314=
NM_003319.4:c.72747A>T (TTN) NP_003310.4:p.Pro24249=
NM_133378.4:c.92238A>T (TTN) NP_596869.4:p.Pro30746=
NM_133432.3:c.73122A>T (TTN) NP_597676.3:p.Pro24374=
NM_133437.4:c.73323A>T (TTN) NP_597681.4:p.Pro24441=
NR_038271.1:n.446+13531T>A (TTN-AS1)
NR_038272.1:n.317-194T>A (TTN-AS1)
XM_011511729.1:c.99039A>T (TTN) XP_011510031.1:p.Pro33013=
XM_011511730.1:c.72933A>T (TTN) XP_011510032.1:p.Pro24311=
XM_011511731.1:c.72792A>T (TTN) XP_011510033.1:p.Pro24264=
XM_017004819.1:c.98835A>T (TTN) XP_016860308.1:p.Pro32945=
XM_017004820.1:c.94233A>T (TTN) XP_016860309.1:p.Pro31411=
XM_017004821.1:c.94230A>T (TTN) XP_016860310.1:p.Pro31410=
XM_017004822.1:c.91272A>T (TTN) XP_016860311.1:p.Pro30424=
XM_017004823.1:c.72888A>T (TTN) XP_016860312.1:p.Pro24296=
XM_024453094.1:c.94383A>T (TTN) XP_024308862.1:p.Pro31461=
XM_024453095.1:c.94380A>T (TTN) XP_024308863.1:p.Pro31460=
XM_024453096.1:c.93813A>T (TTN) XP_024308864.1:p.Pro31271=
XM_024453097.1:c.91155A>T (TTN) XP_024308865.1:p.Pro30385=
XM_024453098.1:c.91074A>T (TTN) XP_024308866.1:p.Pro30358=
XM_024453099.1:c.72837A>T (TTN) XP_024308867.1:p.Pro24279=
XM_024453100.1:c.62691A>T (TTN) XP_024308868.1:p.Pro20897=