Canonical Allele Identifier: CA430263972

Linked Data

MyVariant Identifiers: chr2:g.179449384A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178584657A>G , CM000664.2:g.178584657A>G GRCh38
NC_000002.11:g.179449384A>G , CM000664.1:g.179449384A>G GRCh37
NC_000002.10:g.179157630A>G NCBI36
NG_011618.3:g.251146T>C , LRG_391:g.251146T>C
NG_051363.1:g.66831A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.57268+12T>C (TTN) ENSP00000343764.6:n.57268+12T>C
ENST00000342175.11:c.38353+12T>C (TTN) ENSP00000340554.6:n.38353+12T>C
ENST00000359218.10:c.38152+12T>C (TTN) ENSP00000352154.5:n.38152+12T>C
ENST00000342175.10:c.38353+12T>C (TTN) ENSP00000340554.6:n.38353+12T>C
ENST00000342992.10:c.57268+12T>C (TTN) ENSP00000343764.6:n.57268+12T>C
ENST00000359218.9:c.38152+12T>C (TTN) ENSP00000352154.5:n.38152+12T>C
ENST00000460472.6:c.37777+12T>C (TTN) ENSP00000434586.1:n.37777+12T>C
ENST00000589042.5:c.64972+12T>C (TTN) MANE Select ENSP00000467141.1:n.64972+12T>C
ENST00000591111.5:c.60049+12T>C (TTN) ENSP00000465570.1:n.60049+12T>C
ENST00000615779.4:c.60049+12T>C (TTN) ENSP00000483597.1:n.60049+12T>C
NM_001256850.1:c.60049+12T>C (TTN) NP_001243779.1:n.60049+12T>C
NM_001267550.2:c.64972+12T>C (TTN) MANE Select NP_001254479.2:n.64972+12T>C
NM_003319.4:c.37777+12T>C (TTN) NP_003310.4:n.37777+12T>C
NM_133378.4:c.57268+12T>C (TTN) NP_596869.4:n.57268+12T>C
NM_133432.3:c.38152+12T>C (TTN) NP_597676.3:n.38152+12T>C
NM_133437.4:c.38353+12T>C (TTN) NP_597681.4:n.38353+12T>C
NR_038271.1:n.597-12939A>G (TTN-AS1)
NR_038272.1:n.2852A>G (TTN-AS1)
XM_011511729.1:c.64069+12T>C (TTN) XP_011510031.1:n.64069+12T>C
XM_011511730.1:c.37963+12T>C (TTN) XP_011510032.1:n.37963+12T>C
XM_011511731.1:c.37822+12T>C (TTN) XP_011510033.1:n.37822+12T>C
XM_017004819.1:c.63865+12T>C (TTN) XP_016860308.1:n.63865+12T>C
XM_017004820.1:c.59263+12T>C (TTN) XP_016860309.1:n.59263+12T>C
XM_017004821.1:c.59260+12T>C (TTN) XP_016860310.1:n.59260+12T>C
XM_017004822.1:c.56302+12T>C (TTN) XP_016860311.1:n.56302+12T>C
XM_017004823.1:c.37918+12T>C (TTN) XP_016860312.1:n.37918+12T>C
XM_024453094.1:c.59413+12T>C (TTN) XP_024308862.1:n.59413+12T>C
XM_024453095.1:c.59410+12T>C (TTN) XP_024308863.1:n.59410+12T>C
XM_024453096.1:c.58843+12T>C (TTN) XP_024308864.1:n.58843+12T>C
XM_024453097.1:c.56185+12T>C (TTN) XP_024308865.1:n.56185+12T>C
XM_024453098.1:c.56104+12T>C (TTN) XP_024308866.1:n.56104+12T>C
XM_024453099.1:c.37867+12T>C (TTN) XP_024308867.1:n.37867+12T>C
XM_024453100.1:c.27721+12T>C (TTN) XP_024308868.1:n.27721+12T>C