Canonical Allele Identifier: CA430241688

Linked Data

MyVariant Identifiers: chr2:g.179408655C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543928C>A , CM000664.2:g.178543928C>A GRCh38
NC_000002.11:g.179408655C>A , CM000664.1:g.179408655C>A GRCh37
NC_000002.10:g.179116901C>A NCBI36
NG_011618.3:g.291875G>T , LRG_391:g.291875G>T
NG_051363.1:g.26102C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88512G>T (TTN) ENSP00000343764.6:p.Val29504=
ENST00000342175.11:c.69597G>T (TTN) ENSP00000340554.6:p.Val23199=
ENST00000359218.10:c.69396G>T (TTN) ENSP00000352154.5:p.Val23132=
ENST00000342175.10:c.69597G>T (TTN) ENSP00000340554.6:p.Val23199=
ENST00000342992.10:c.88512G>T (TTN) ENSP00000343764.6:p.Val29504=
ENST00000359218.9:c.69396G>T (TTN) ENSP00000352154.5:p.Val23132=
ENST00000460472.6:c.69021G>T (TTN) ENSP00000434586.1:p.Val23007=
ENST00000589042.5:c.96216G>T (TTN) MANE Select ENSP00000467141.1:p.Val32072=
ENST00000591111.5:c.91293G>T (TTN) ENSP00000465570.1:p.Val30431=
ENST00000615779.4:c.91293G>T (TTN) ENSP00000483597.1:p.Val30431=
NM_001256850.1:c.91293G>T (TTN) NP_001243779.1:p.Val30431=
NM_001267550.2:c.96216G>T (TTN) MANE Select NP_001254479.2:p.Val32072=
NM_003319.4:c.69021G>T (TTN) NP_003310.4:p.Val23007=
NM_133378.4:c.88512G>T (TTN) NP_596869.4:p.Val29504=
NM_133432.3:c.69396G>T (TTN) NP_597676.3:p.Val23132=
NM_133437.4:c.69597G>T (TTN) NP_597681.4:p.Val23199=
NR_038271.1:n.446+20292C>A (TTN-AS1)
NR_038272.1:n.2043+1567C>A (TTN-AS1)
XM_011511729.1:c.95313G>T (TTN) XP_011510031.1:p.Val31771=
XM_011511730.1:c.69207G>T (TTN) XP_011510032.1:p.Val23069=
XM_011511731.1:c.69066G>T (TTN) XP_011510033.1:p.Val23022=
XM_017004819.1:c.95109G>T (TTN) XP_016860308.1:p.Val31703=
XM_017004820.1:c.90507G>T (TTN) XP_016860309.1:p.Val30169=
XM_017004821.1:c.90504G>T (TTN) XP_016860310.1:p.Val30168=
XM_017004822.1:c.87546G>T (TTN) XP_016860311.1:p.Val29182=
XM_017004823.1:c.69162G>T (TTN) XP_016860312.1:p.Val23054=
XM_024453094.1:c.90657G>T (TTN) XP_024308862.1:p.Val30219=
XM_024453095.1:c.90654G>T (TTN) XP_024308863.1:p.Val30218=
XM_024453096.1:c.90087G>T (TTN) XP_024308864.1:p.Val30029=
XM_024453097.1:c.87429G>T (TTN) XP_024308865.1:p.Val29143=
XM_024453098.1:c.87348G>T (TTN) XP_024308866.1:p.Val29116=
XM_024453099.1:c.69111G>T (TTN) XP_024308867.1:p.Val23037=
XM_024453100.1:c.58965G>T (TTN) XP_024308868.1:p.Val19655=