Canonical Allele Identifier: CA430234207

Linked Data

MyVariant Identifiers: chr2:g.179392225A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178527498A>G , CM000664.2:g.178527498A>G GRCh38
NC_000002.11:g.179392225A>G , CM000664.1:g.179392225A>G GRCh37
NC_000002.10:g.179100471A>G NCBI36
NG_011618.3:g.308305T>C , LRG_391:g.308305T>C
NG_051363.1:g.9672A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.99924T>C (TTN) ENSP00000343764.6:p.Asn33308=
ENST00000342175.11:c.81009T>C (TTN) ENSP00000340554.6:p.Asn27003=
ENST00000359218.10:c.80808T>C (TTN) ENSP00000352154.5:p.Asn26936=
ENST00000342175.10:c.81009T>C (TTN) ENSP00000340554.6:p.Asn27003=
ENST00000342992.10:c.99924T>C (TTN) ENSP00000343764.6:p.Asn33308=
ENST00000359218.9:c.80808T>C (TTN) ENSP00000352154.5:p.Asn26936=
ENST00000460472.6:c.80433T>C (TTN) ENSP00000434586.1:p.Asn26811=
ENST00000589042.5:c.107628T>C (TTN) MANE Select ENSP00000467141.1:p.Asn35876=
ENST00000591111.5:c.102705T>C (TTN) ENSP00000465570.1:p.Asn34235=
ENST00000615779.4:c.102705T>C (TTN) ENSP00000483597.1:p.Asn34235=
NM_001256850.1:c.102705T>C (TTN) NP_001243779.1:p.Asn34235=
NM_001267550.2:c.107628T>C (TTN) MANE Select NP_001254479.2:p.Asn35876=
NM_003319.4:c.80433T>C (TTN) NP_003310.4:p.Asn26811=
NM_133378.4:c.99924T>C (TTN) NP_596869.4:p.Asn33308=
NM_133432.3:c.80808T>C (TTN) NP_597676.3:p.Asn26936=
NM_133437.4:c.81009T>C (TTN) NP_597681.4:p.Asn27003=
NR_038271.1:n.446+3862A>G (TTN-AS1)
NR_038272.1:n.219+3862A>G (TTN-AS1)
XM_011511729.1:c.106725T>C (TTN) XP_011510031.1:p.Asn35575=
XM_011511730.1:c.80619T>C (TTN) XP_011510032.1:p.Asn26873=
XM_011511731.1:c.80478T>C (TTN) XP_011510033.1:p.Asn26826=
XM_017004819.1:c.106521T>C (TTN) XP_016860308.1:p.Asn35507=
XM_017004820.1:c.101919T>C (TTN) XP_016860309.1:p.Asn33973=
XM_017004821.1:c.101916T>C (TTN) XP_016860310.1:p.Asn33972=
XM_017004822.1:c.98958T>C (TTN) XP_016860311.1:p.Asn32986=
XM_017004823.1:c.80574T>C (TTN) XP_016860312.1:p.Asn26858=
XM_024453094.1:c.102069T>C (TTN) XP_024308862.1:p.Asn34023=
XM_024453095.1:c.102066T>C (TTN) XP_024308863.1:p.Asn34022=
XM_024453096.1:c.101499T>C (TTN) XP_024308864.1:p.Asn33833=
XM_024453097.1:c.98841T>C (TTN) XP_024308865.1:p.Asn32947=
XM_024453098.1:c.98760T>C (TTN) XP_024308866.1:p.Asn32920=
XM_024453099.1:c.80523T>C (TTN) XP_024308867.1:p.Asn26841=
XM_024453100.1:c.70377T>C (TTN) XP_024308868.1:p.Asn23459=