Canonical Allele Identifier: CA430272941

Linked Data

MyVariant Identifiers: chr2:g.179478660T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178613933T>C , CM000664.2:g.178613933T>C GRCh38
NC_000002.11:g.179478660T>C , CM000664.1:g.179478660T>C GRCh37
NC_000002.10:g.179186905T>C NCBI36
NG_011618.3:g.221870A>G , LRG_391:g.221870A>G
NG_051363.1:g.96107T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.41646A>G (TTN) ENSP00000343764.6:p.Pro13882=
ENST00000342175.11:c.22731A>G (TTN) ENSP00000340554.6:p.Pro7577=
ENST00000359218.10:c.22530A>G (TTN) ENSP00000352154.5:p.Pro7510=
ENST00000342175.10:c.22731A>G (TTN) ENSP00000340554.6:p.Pro7577=
ENST00000342992.10:c.41646A>G (TTN) ENSP00000343764.6:p.Pro13882=
ENST00000359218.9:c.22530A>G (TTN) ENSP00000352154.5:p.Pro7510=
ENST00000460472.6:c.22155A>G (TTN) ENSP00000434586.1:p.Pro7385=
ENST00000589042.5:c.49350A>G (TTN) MANE Select ENSP00000467141.1:p.Pro16450=
ENST00000591111.5:c.44427A>G (TTN) ENSP00000465570.1:p.Pro14809=
ENST00000615779.4:c.44427A>G (TTN) ENSP00000483597.1:p.Pro14809=
NM_001256850.1:c.44427A>G (TTN) NP_001243779.1:p.Pro14809=
NM_001267550.2:c.49350A>G (TTN) MANE Select NP_001254479.2:p.Pro16450=
NM_003319.4:c.22155A>G (TTN) NP_003310.4:p.Pro7385=
NM_133378.4:c.41646A>G (TTN) NP_596869.4:p.Pro13882=
NM_133432.3:c.22530A>G (TTN) NP_597676.3:p.Pro7510=
NM_133437.4:c.22731A>G (TTN) NP_597681.4:p.Pro7577=
NR_038271.1:n.783-102T>C (TTN-AS1)
XM_011511729.1:c.48447A>G (TTN) XP_011510031.1:p.Pro16149=
XM_011511730.1:c.22341A>G (TTN) XP_011510032.1:p.Pro7447=
XM_011511731.1:c.22200A>G (TTN) XP_011510033.1:p.Pro7400=
XM_017004819.1:c.48243A>G (TTN) XP_016860308.1:p.Pro16081=
XM_017004820.1:c.43641A>G (TTN) XP_016860309.1:p.Pro14547=
XM_017004821.1:c.43638A>G (TTN) XP_016860310.1:p.Pro14546=
XM_017004822.1:c.40680A>G (TTN) XP_016860311.1:p.Pro13560=
XM_017004823.1:c.22296A>G (TTN) XP_016860312.1:p.Pro7432=
XM_024453094.1:c.43791A>G (TTN) XP_024308862.1:p.Pro14597=
XM_024453095.1:c.43788A>G (TTN) XP_024308863.1:p.Pro14596=
XM_024453096.1:c.43221A>G (TTN) XP_024308864.1:p.Pro14407=
XM_024453097.1:c.40563A>G (TTN) XP_024308865.1:p.Pro13521=
XM_024453098.1:c.40482A>G (TTN) XP_024308866.1:p.Pro13494=
XM_024453099.1:c.22245A>G (TTN) XP_024308867.1:p.Pro7415=
XM_024453100.1:c.12099A>G (TTN) XP_024308868.1:p.Pro4033=