Canonical Allele Identifier: CA430274417

Linked Data

MyVariant Identifiers: chr2:g.179482765A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178618038A>G , CM000664.2:g.178618038A>G GRCh38
NC_000002.11:g.179482765A>G , CM000664.1:g.179482765A>G GRCh37
NC_000002.10:g.179191010A>G NCBI36
NG_011618.3:g.217765T>C , LRG_391:g.217765T>C
NG_051363.1:g.100212A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.39609T>C (TTN) ENSP00000343764.6:p.Asn13203=
ENST00000342175.11:c.20694T>C (TTN) ENSP00000340554.6:p.Asn6898=
ENST00000359218.10:c.20493T>C (TTN) ENSP00000352154.5:p.Asn6831=
ENST00000342175.10:c.20694T>C (TTN) ENSP00000340554.6:p.Asn6898=
ENST00000342992.10:c.39609T>C (TTN) ENSP00000343764.6:p.Asn13203=
ENST00000359218.9:c.20493T>C (TTN) ENSP00000352154.5:p.Asn6831=
ENST00000460472.6:c.20118T>C (TTN) ENSP00000434586.1:p.Asn6706=
ENST00000589042.5:c.47313T>C (TTN) MANE Select ENSP00000467141.1:p.Asn15771=
ENST00000591111.5:c.42390T>C (TTN) ENSP00000465570.1:p.Asn14130=
ENST00000615779.4:c.42390T>C (TTN) ENSP00000483597.1:p.Asn14130=
NM_001256850.1:c.42390T>C (TTN) NP_001243779.1:p.Asn14130=
NM_001267550.2:c.47313T>C (TTN) MANE Select NP_001254479.2:p.Asn15771=
NM_003319.4:c.20118T>C (TTN) NP_003310.4:p.Asn6706=
NM_133378.4:c.39609T>C (TTN) NP_596869.4:p.Asn13203=
NM_133432.3:c.20493T>C (TTN) NP_597676.3:p.Asn6831=
NM_133437.4:c.20694T>C (TTN) NP_597681.4:p.Asn6898=
NR_038271.1:n.1605-1715A>G (TTN-AS1)
XM_011511729.1:c.46410T>C (TTN) XP_011510031.1:p.Asn15470=
XM_011511730.1:c.20304T>C (TTN) XP_011510032.1:p.Asn6768=
XM_011511731.1:c.20163T>C (TTN) XP_011510033.1:p.Asn6721=
XM_017004819.1:c.46206T>C (TTN) XP_016860308.1:p.Asn15402=
XM_017004820.1:c.41604T>C (TTN) XP_016860309.1:p.Asn13868=
XM_017004821.1:c.41601T>C (TTN) XP_016860310.1:p.Asn13867=
XM_017004822.1:c.38643T>C (TTN) XP_016860311.1:p.Asn12881=
XM_017004823.1:c.20259T>C (TTN) XP_016860312.1:p.Asn6753=
XM_024453094.1:c.41754T>C (TTN) XP_024308862.1:p.Asn13918=
XM_024453095.1:c.41751T>C (TTN) XP_024308863.1:p.Asn13917=
XM_024453096.1:c.41184T>C (TTN) XP_024308864.1:p.Asn13728=
XM_024453097.1:c.38526T>C (TTN) XP_024308865.1:p.Asn12842=
XM_024453098.1:c.38445T>C (TTN) XP_024308866.1:p.Asn12815=
XM_024453099.1:c.20208T>C (TTN) XP_024308867.1:p.Asn6736=
XM_024453100.1:c.10062T>C (TTN) XP_024308868.1:p.Asn3354=