Canonical Allele Identifier: CA430235758

Linked Data

MyVariant Identifiers: chr2:g.179396765C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532038C>A , CM000664.2:g.178532038C>A GRCh38
NC_000002.11:g.179396765C>A , CM000664.1:g.179396765C>A GRCh37
NC_000002.10:g.179105011C>A NCBI36
NG_011618.3:g.303765G>T , LRG_391:g.303765G>T
NG_051363.1:g.14212C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96873G>T (TTN) ENSP00000343764.6:p.Arg32291=
ENST00000342175.11:c.77958G>T (TTN) ENSP00000340554.6:p.Arg25986=
ENST00000359218.10:c.77757G>T (TTN) ENSP00000352154.5:p.Arg25919=
ENST00000342175.10:c.77958G>T (TTN) ENSP00000340554.6:p.Arg25986=
ENST00000342992.10:c.96873G>T (TTN) ENSP00000343764.6:p.Arg32291=
ENST00000359218.9:c.77757G>T (TTN) ENSP00000352154.5:p.Arg25919=
ENST00000460472.6:c.77382G>T (TTN) ENSP00000434586.1:p.Arg25794=
ENST00000589042.5:c.104577G>T (TTN) MANE Select ENSP00000467141.1:p.Arg34859=
ENST00000591111.5:c.99654G>T (TTN) ENSP00000465570.1:p.Arg33218=
ENST00000615779.4:c.99654G>T (TTN) ENSP00000483597.1:p.Arg33218=
NM_001256850.1:c.99654G>T (TTN) NP_001243779.1:p.Arg33218=
NM_001267550.2:c.104577G>T (TTN) MANE Select NP_001254479.2:p.Arg34859=
NM_003319.4:c.77382G>T (TTN) NP_003310.4:p.Arg25794=
NM_133378.4:c.96873G>T (TTN) NP_596869.4:p.Arg32291=
NM_133432.3:c.77757G>T (TTN) NP_597676.3:p.Arg25919=
NM_133437.4:c.77958G>T (TTN) NP_597681.4:p.Arg25986=
NR_038271.1:n.446+8402C>A (TTN-AS1)
NR_038272.1:n.220-3694C>A (TTN-AS1)
XM_011511729.1:c.103674G>T (TTN) XP_011510031.1:p.Arg34558=
XM_011511730.1:c.77568G>T (TTN) XP_011510032.1:p.Arg25856=
XM_011511731.1:c.77427G>T (TTN) XP_011510033.1:p.Arg25809=
XM_017004819.1:c.103470G>T (TTN) XP_016860308.1:p.Arg34490=
XM_017004820.1:c.98868G>T (TTN) XP_016860309.1:p.Arg32956=
XM_017004821.1:c.98865G>T (TTN) XP_016860310.1:p.Arg32955=
XM_017004822.1:c.95907G>T (TTN) XP_016860311.1:p.Arg31969=
XM_017004823.1:c.77523G>T (TTN) XP_016860312.1:p.Arg25841=
XM_024453094.1:c.99018G>T (TTN) XP_024308862.1:p.Arg33006=
XM_024453095.1:c.99015G>T (TTN) XP_024308863.1:p.Arg33005=
XM_024453096.1:c.98448G>T (TTN) XP_024308864.1:p.Arg32816=
XM_024453097.1:c.95790G>T (TTN) XP_024308865.1:p.Arg31930=
XM_024453098.1:c.95709G>T (TTN) XP_024308866.1:p.Arg31903=
XM_024453099.1:c.77472G>T (TTN) XP_024308867.1:p.Arg25824=
XM_024453100.1:c.67326G>T (TTN) XP_024308868.1:p.Arg22442=