Canonical Allele Identifier: CA430261032

Linked Data

MyVariant Identifiers: chr2:g.179444301T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178579574T>A , CM000664.2:g.178579574T>A GRCh38
NC_000002.11:g.179444301T>A , CM000664.1:g.179444301T>A GRCh37
NC_000002.10:g.179152547T>A NCBI36
NG_011618.3:g.256229A>T , LRG_391:g.256229A>T
NG_051363.1:g.61748T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.59919A>T (TTN) ENSP00000343764.6:p.Ala19973=
ENST00000342175.11:c.41004A>T (TTN) ENSP00000340554.6:p.Ala13668=
ENST00000359218.10:c.40803A>T (TTN) ENSP00000352154.5:p.Ala13601=
ENST00000342175.10:c.41004A>T (TTN) ENSP00000340554.6:p.Ala13668=
ENST00000342992.10:c.59919A>T (TTN) ENSP00000343764.6:p.Ala19973=
ENST00000359218.9:c.40803A>T (TTN) ENSP00000352154.5:p.Ala13601=
ENST00000460472.6:c.40428A>T (TTN) ENSP00000434586.1:p.Ala13476=
ENST00000589042.5:c.67623A>T (TTN) MANE Select ENSP00000467141.1:p.Ala22541=
ENST00000591111.5:c.62700A>T (TTN) ENSP00000465570.1:p.Ala20900=
ENST00000615779.4:c.62700A>T (TTN) ENSP00000483597.1:p.Ala20900=
NM_001256850.1:c.62700A>T (TTN) NP_001243779.1:p.Ala20900=
NM_001267550.2:c.67623A>T (TTN) MANE Select NP_001254479.2:p.Ala22541=
NM_003319.4:c.40428A>T (TTN) NP_003310.4:p.Ala13476=
NM_133378.4:c.59919A>T (TTN) NP_596869.4:p.Ala19973=
NM_133432.3:c.40803A>T (TTN) NP_597676.3:p.Ala13601=
NM_133437.4:c.41004A>T (TTN) NP_597681.4:p.Ala13668=
NR_038271.1:n.596+8125T>A (TTN-AS1)
NR_038272.1:n.2044-2998T>A (TTN-AS1)
XM_011511729.1:c.66720A>T (TTN) XP_011510031.1:p.Ala22240=
XM_011511730.1:c.40614A>T (TTN) XP_011510032.1:p.Ala13538=
XM_011511731.1:c.40473A>T (TTN) XP_011510033.1:p.Ala13491=
XM_017004819.1:c.66516A>T (TTN) XP_016860308.1:p.Ala22172=
XM_017004820.1:c.61914A>T (TTN) XP_016860309.1:p.Ala20638=
XM_017004821.1:c.61911A>T (TTN) XP_016860310.1:p.Ala20637=
XM_017004822.1:c.58953A>T (TTN) XP_016860311.1:p.Ala19651=
XM_017004823.1:c.40569A>T (TTN) XP_016860312.1:p.Ala13523=
XM_024453094.1:c.62064A>T (TTN) XP_024308862.1:p.Ala20688=
XM_024453095.1:c.62061A>T (TTN) XP_024308863.1:p.Ala20687=
XM_024453096.1:c.61494A>T (TTN) XP_024308864.1:p.Ala20498=
XM_024453097.1:c.58836A>T (TTN) XP_024308865.1:p.Ala19612=
XM_024453098.1:c.58755A>T (TTN) XP_024308866.1:p.Ala19585=
XM_024453099.1:c.40518A>T (TTN) XP_024308867.1:p.Ala13506=
XM_024453100.1:c.30372A>T (TTN) XP_024308868.1:p.Ala10124=