Canonical Allele Identifier: CA430235936

Linked Data

MyVariant Identifiers: chr2:g.179396944T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532217T>G , CM000664.2:g.178532217T>G GRCh38
NC_000002.11:g.179396944T>G , CM000664.1:g.179396944T>G GRCh37
NC_000002.10:g.179105190T>G NCBI36
NG_011618.3:g.303586A>C , LRG_391:g.303586A>C
NG_051363.1:g.14391T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96694A>C (TTN) ENSP00000343764.6:p.Arg32232=
ENST00000342175.11:c.77779A>C (TTN) ENSP00000340554.6:p.Arg25927=
ENST00000359218.10:c.77578A>C (TTN) ENSP00000352154.5:p.Arg25860=
ENST00000342175.10:c.77779A>C (TTN) ENSP00000340554.6:p.Arg25927=
ENST00000342992.10:c.96694A>C (TTN) ENSP00000343764.6:p.Arg32232=
ENST00000359218.9:c.77578A>C (TTN) ENSP00000352154.5:p.Arg25860=
ENST00000460472.6:c.77203A>C (TTN) ENSP00000434586.1:p.Arg25735=
ENST00000589042.5:c.104398A>C (TTN) MANE Select ENSP00000467141.1:p.Arg34800=
ENST00000591111.5:c.99475A>C (TTN) ENSP00000465570.1:p.Arg33159=
ENST00000615779.4:c.99475A>C (TTN) ENSP00000483597.1:p.Arg33159=
NM_001256850.1:c.99475A>C (TTN) NP_001243779.1:p.Arg33159=
NM_001267550.2:c.104398A>C (TTN) MANE Select NP_001254479.2:p.Arg34800=
NM_003319.4:c.77203A>C (TTN) NP_003310.4:p.Arg25735=
NM_133378.4:c.96694A>C (TTN) NP_596869.4:p.Arg32232=
NM_133432.3:c.77578A>C (TTN) NP_597676.3:p.Arg25860=
NM_133437.4:c.77779A>C (TTN) NP_597681.4:p.Arg25927=
NR_038271.1:n.446+8581T>G (TTN-AS1)
NR_038272.1:n.220-3515T>G (TTN-AS1)
XM_011511729.1:c.103495A>C (TTN) XP_011510031.1:p.Arg34499=
XM_011511730.1:c.77389A>C (TTN) XP_011510032.1:p.Arg25797=
XM_011511731.1:c.77248A>C (TTN) XP_011510033.1:p.Arg25750=
XM_017004819.1:c.103291A>C (TTN) XP_016860308.1:p.Arg34431=
XM_017004820.1:c.98689A>C (TTN) XP_016860309.1:p.Arg32897=
XM_017004821.1:c.98686A>C (TTN) XP_016860310.1:p.Arg32896=
XM_017004822.1:c.95728A>C (TTN) XP_016860311.1:p.Arg31910=
XM_017004823.1:c.77344A>C (TTN) XP_016860312.1:p.Arg25782=
XM_024453094.1:c.98839A>C (TTN) XP_024308862.1:p.Arg32947=
XM_024453095.1:c.98836A>C (TTN) XP_024308863.1:p.Arg32946=
XM_024453096.1:c.98269A>C (TTN) XP_024308864.1:p.Arg32757=
XM_024453097.1:c.95611A>C (TTN) XP_024308865.1:p.Arg31871=
XM_024453098.1:c.95530A>C (TTN) XP_024308866.1:p.Arg31844=
XM_024453099.1:c.77293A>C (TTN) XP_024308867.1:p.Arg25765=
XM_024453100.1:c.67147A>C (TTN) XP_024308868.1:p.Arg22383=