Canonical Allele Identifier: CA430254039

Linked Data

MyVariant Identifiers: chr2:g.179433738C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178569011C>A , CM000664.2:g.178569011C>A GRCh38
NC_000002.11:g.179433738C>A , CM000664.1:g.179433738C>A GRCh37
NC_000002.10:g.179141984C>A NCBI36
NG_011618.3:g.266792G>T , LRG_391:g.266792G>T
NG_051363.1:g.51185C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.69417G>T (TTN) ENSP00000343764.6:p.Val23139=
ENST00000342175.11:c.50502G>T (TTN) ENSP00000340554.6:p.Val16834=
ENST00000359218.10:c.50301G>T (TTN) ENSP00000352154.5:p.Val16767=
ENST00000342175.10:c.50502G>T (TTN) ENSP00000340554.6:p.Val16834=
ENST00000342992.10:c.69417G>T (TTN) ENSP00000343764.6:p.Val23139=
ENST00000359218.9:c.50301G>T (TTN) ENSP00000352154.5:p.Val16767=
ENST00000460472.6:c.49926G>T (TTN) ENSP00000434586.1:p.Val16642=
ENST00000589042.5:c.77121G>T (TTN) MANE Select ENSP00000467141.1:p.Val25707=
ENST00000591111.5:c.72198G>T (TTN) ENSP00000465570.1:p.Val24066=
ENST00000615779.4:c.72198G>T (TTN) ENSP00000483597.1:p.Val24066=
NM_001256850.1:c.72198G>T (TTN) NP_001243779.1:p.Val24066=
NM_001267550.2:c.77121G>T (TTN) MANE Select NP_001254479.2:p.Val25707=
NM_003319.4:c.49926G>T (TTN) NP_003310.4:p.Val16642=
NM_133378.4:c.69417G>T (TTN) NP_596869.4:p.Val23139=
NM_133432.3:c.50301G>T (TTN) NP_597676.3:p.Val16767=
NM_133437.4:c.50502G>T (TTN) NP_597681.4:p.Val16834=
NR_038271.1:n.447-2289C>A (TTN-AS1)
NR_038272.1:n.2044-13561C>A (TTN-AS1)
XM_011511729.1:c.76218G>T (TTN) XP_011510031.1:p.Val25406=
XM_011511730.1:c.50112G>T (TTN) XP_011510032.1:p.Val16704=
XM_011511731.1:c.49971G>T (TTN) XP_011510033.1:p.Val16657=
XM_017004819.1:c.76014G>T (TTN) XP_016860308.1:p.Val25338=
XM_017004820.1:c.71412G>T (TTN) XP_016860309.1:p.Val23804=
XM_017004821.1:c.71409G>T (TTN) XP_016860310.1:p.Val23803=
XM_017004822.1:c.68451G>T (TTN) XP_016860311.1:p.Val22817=
XM_017004823.1:c.50067G>T (TTN) XP_016860312.1:p.Val16689=
XM_024453094.1:c.71562G>T (TTN) XP_024308862.1:p.Val23854=
XM_024453095.1:c.71559G>T (TTN) XP_024308863.1:p.Val23853=
XM_024453096.1:c.70992G>T (TTN) XP_024308864.1:p.Val23664=
XM_024453097.1:c.68334G>T (TTN) XP_024308865.1:p.Val22778=
XM_024453098.1:c.68253G>T (TTN) XP_024308866.1:p.Val22751=
XM_024453099.1:c.50016G>T (TTN) XP_024308867.1:p.Val16672=
XM_024453100.1:c.39870G>T (TTN) XP_024308868.1:p.Val13290=