Canonical Allele Identifier: CA430274547

Linked Data

MyVariant Identifiers: chr2:g.179482804A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178618077A>C , CM000664.2:g.178618077A>C GRCh38
NC_000002.11:g.179482804A>C , CM000664.1:g.179482804A>C GRCh37
NC_000002.10:g.179191049A>C NCBI36
NG_011618.3:g.217726T>G , LRG_391:g.217726T>G
NG_051363.1:g.100251A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.39570T>G (TTN) ENSP00000343764.6:p.Val13190=
ENST00000342175.11:c.20655T>G (TTN) ENSP00000340554.6:p.Val6885=
ENST00000359218.10:c.20454T>G (TTN) ENSP00000352154.5:p.Val6818=
ENST00000342175.10:c.20655T>G (TTN) ENSP00000340554.6:p.Val6885=
ENST00000342992.10:c.39570T>G (TTN) ENSP00000343764.6:p.Val13190=
ENST00000359218.9:c.20454T>G (TTN) ENSP00000352154.5:p.Val6818=
ENST00000460472.6:c.20079T>G (TTN) ENSP00000434586.1:p.Val6693=
ENST00000589042.5:c.47274T>G (TTN) MANE Select ENSP00000467141.1:p.Val15758=
ENST00000591111.5:c.42351T>G (TTN) ENSP00000465570.1:p.Val14117=
ENST00000615779.4:c.42351T>G (TTN) ENSP00000483597.1:p.Val14117=
NM_001256850.1:c.42351T>G (TTN) NP_001243779.1:p.Val14117=
NM_001267550.2:c.47274T>G (TTN) MANE Select NP_001254479.2:p.Val15758=
NM_003319.4:c.20079T>G (TTN) NP_003310.4:p.Val6693=
NM_133378.4:c.39570T>G (TTN) NP_596869.4:p.Val13190=
NM_133432.3:c.20454T>G (TTN) NP_597676.3:p.Val6818=
NM_133437.4:c.20655T>G (TTN) NP_597681.4:p.Val6885=
NR_038271.1:n.1605-1676A>C (TTN-AS1)
XM_011511729.1:c.46371T>G (TTN) XP_011510031.1:p.Val15457=
XM_011511730.1:c.20265T>G (TTN) XP_011510032.1:p.Val6755=
XM_011511731.1:c.20124T>G (TTN) XP_011510033.1:p.Val6708=
XM_017004819.1:c.46167T>G (TTN) XP_016860308.1:p.Val15389=
XM_017004820.1:c.41565T>G (TTN) XP_016860309.1:p.Val13855=
XM_017004821.1:c.41562T>G (TTN) XP_016860310.1:p.Val13854=
XM_017004822.1:c.38604T>G (TTN) XP_016860311.1:p.Val12868=
XM_017004823.1:c.20220T>G (TTN) XP_016860312.1:p.Val6740=
XM_024453094.1:c.41715T>G (TTN) XP_024308862.1:p.Val13905=
XM_024453095.1:c.41712T>G (TTN) XP_024308863.1:p.Val13904=
XM_024453096.1:c.41145T>G (TTN) XP_024308864.1:p.Val13715=
XM_024453097.1:c.38487T>G (TTN) XP_024308865.1:p.Val12829=
XM_024453098.1:c.38406T>G (TTN) XP_024308866.1:p.Val12802=
XM_024453099.1:c.20169T>G (TTN) XP_024308867.1:p.Val6723=
XM_024453100.1:c.10023T>G (TTN) XP_024308868.1:p.Val3341=