Canonical Allele Identifier: CA430235058

Linked Data

MyVariant Identifiers: chr2:g.179395205A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530478A>G , CM000664.2:g.178530478A>G GRCh38
NC_000002.11:g.179395205A>G , CM000664.1:g.179395205A>G GRCh37
NC_000002.10:g.179103451A>G NCBI36
NG_011618.3:g.305325T>C , LRG_391:g.305325T>C
NG_051363.1:g.12652A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98433T>C (TTN) ENSP00000343764.6:p.Phe32811=
ENST00000342175.11:c.79518T>C (TTN) ENSP00000340554.6:p.Phe26506=
ENST00000359218.10:c.79317T>C (TTN) ENSP00000352154.5:p.Phe26439=
ENST00000342175.10:c.79518T>C (TTN) ENSP00000340554.6:p.Phe26506=
ENST00000342992.10:c.98433T>C (TTN) ENSP00000343764.6:p.Phe32811=
ENST00000359218.9:c.79317T>C (TTN) ENSP00000352154.5:p.Phe26439=
ENST00000460472.6:c.78942T>C (TTN) ENSP00000434586.1:p.Phe26314=
ENST00000589042.5:c.106137T>C (TTN) MANE Select ENSP00000467141.1:p.Phe35379=
ENST00000591111.5:c.101214T>C (TTN) ENSP00000465570.1:p.Phe33738=
ENST00000615779.4:c.101214T>C (TTN) ENSP00000483597.1:p.Phe33738=
NM_001256850.1:c.101214T>C (TTN) NP_001243779.1:p.Phe33738=
NM_001267550.2:c.106137T>C (TTN) MANE Select NP_001254479.2:p.Phe35379=
NM_003319.4:c.78942T>C (TTN) NP_003310.4:p.Phe26314=
NM_133378.4:c.98433T>C (TTN) NP_596869.4:p.Phe32811=
NM_133432.3:c.79317T>C (TTN) NP_597676.3:p.Phe26439=
NM_133437.4:c.79518T>C (TTN) NP_597681.4:p.Phe26506=
NR_038271.1:n.446+6842A>G (TTN-AS1)
NR_038272.1:n.220-5254A>G (TTN-AS1)
XM_011511729.1:c.105234T>C (TTN) XP_011510031.1:p.Phe35078=
XM_011511730.1:c.79128T>C (TTN) XP_011510032.1:p.Phe26376=
XM_011511731.1:c.78987T>C (TTN) XP_011510033.1:p.Phe26329=
XM_017004819.1:c.105030T>C (TTN) XP_016860308.1:p.Phe35010=
XM_017004820.1:c.100428T>C (TTN) XP_016860309.1:p.Phe33476=
XM_017004821.1:c.100425T>C (TTN) XP_016860310.1:p.Phe33475=
XM_017004822.1:c.97467T>C (TTN) XP_016860311.1:p.Phe32489=
XM_017004823.1:c.79083T>C (TTN) XP_016860312.1:p.Phe26361=
XM_024453094.1:c.100578T>C (TTN) XP_024308862.1:p.Phe33526=
XM_024453095.1:c.100575T>C (TTN) XP_024308863.1:p.Phe33525=
XM_024453096.1:c.100008T>C (TTN) XP_024308864.1:p.Phe33336=
XM_024453097.1:c.97350T>C (TTN) XP_024308865.1:p.Phe32450=
XM_024453098.1:c.97269T>C (TTN) XP_024308866.1:p.Phe32423=
XM_024453099.1:c.79032T>C (TTN) XP_024308867.1:p.Phe26344=
XM_024453100.1:c.68886T>C (TTN) XP_024308868.1:p.Phe22962=