Canonical Allele Identifier: CA430235794

Linked Data

MyVariant Identifiers: chr2:g.179396780C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532053C>G , CM000664.2:g.178532053C>G GRCh38
NC_000002.11:g.179396780C>G , CM000664.1:g.179396780C>G GRCh37
NC_000002.10:g.179105026C>G NCBI36
NG_011618.3:g.303750G>C , LRG_391:g.303750G>C
NG_051363.1:g.14227C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96858G>C (TTN) ENSP00000343764.6:p.Val32286=
ENST00000342175.11:c.77943G>C (TTN) ENSP00000340554.6:p.Val25981=
ENST00000359218.10:c.77742G>C (TTN) ENSP00000352154.5:p.Val25914=
ENST00000342175.10:c.77943G>C (TTN) ENSP00000340554.6:p.Val25981=
ENST00000342992.10:c.96858G>C (TTN) ENSP00000343764.6:p.Val32286=
ENST00000359218.9:c.77742G>C (TTN) ENSP00000352154.5:p.Val25914=
ENST00000460472.6:c.77367G>C (TTN) ENSP00000434586.1:p.Val25789=
ENST00000589042.5:c.104562G>C (TTN) MANE Select ENSP00000467141.1:p.Val34854=
ENST00000591111.5:c.99639G>C (TTN) ENSP00000465570.1:p.Val33213=
ENST00000615779.4:c.99639G>C (TTN) ENSP00000483597.1:p.Val33213=
NM_001256850.1:c.99639G>C (TTN) NP_001243779.1:p.Val33213=
NM_001267550.2:c.104562G>C (TTN) MANE Select NP_001254479.2:p.Val34854=
NM_003319.4:c.77367G>C (TTN) NP_003310.4:p.Val25789=
NM_133378.4:c.96858G>C (TTN) NP_596869.4:p.Val32286=
NM_133432.3:c.77742G>C (TTN) NP_597676.3:p.Val25914=
NM_133437.4:c.77943G>C (TTN) NP_597681.4:p.Val25981=
NR_038271.1:n.446+8417C>G (TTN-AS1)
NR_038272.1:n.220-3679C>G (TTN-AS1)
XM_011511729.1:c.103659G>C (TTN) XP_011510031.1:p.Val34553=
XM_011511730.1:c.77553G>C (TTN) XP_011510032.1:p.Val25851=
XM_011511731.1:c.77412G>C (TTN) XP_011510033.1:p.Val25804=
XM_017004819.1:c.103455G>C (TTN) XP_016860308.1:p.Val34485=
XM_017004820.1:c.98853G>C (TTN) XP_016860309.1:p.Val32951=
XM_017004821.1:c.98850G>C (TTN) XP_016860310.1:p.Val32950=
XM_017004822.1:c.95892G>C (TTN) XP_016860311.1:p.Val31964=
XM_017004823.1:c.77508G>C (TTN) XP_016860312.1:p.Val25836=
XM_024453094.1:c.99003G>C (TTN) XP_024308862.1:p.Val33001=
XM_024453095.1:c.99000G>C (TTN) XP_024308863.1:p.Val33000=
XM_024453096.1:c.98433G>C (TTN) XP_024308864.1:p.Val32811=
XM_024453097.1:c.95775G>C (TTN) XP_024308865.1:p.Val31925=
XM_024453098.1:c.95694G>C (TTN) XP_024308866.1:p.Val31898=
XM_024453099.1:c.77457G>C (TTN) XP_024308867.1:p.Val25819=
XM_024453100.1:c.67311G>C (TTN) XP_024308868.1:p.Val22437=