Transcript #00005099

Transcript name EF-hand domain (C-terminal) containing 2
Gene name EFHC2 (EF-hand domain (C-terminal) containing 2)
Chromosome X
Transcript - NCBI ID NM_025184.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_079460.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

85 entries on 1 page. Showing entries 1 - 85.
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Affects function     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/? c.-57_-56insG r.(=) p.(=)
?/? c.-45C>T r.(=) p.(=)
?/? c.9G>A r.(=) p.(=)
?/? c.35A>G r.(?) p.(Asn12Ser)
?/? c.42+25C>T r.(=) p.(=)
?/? c.43-11T>A r.(=) p.(=)
?/? c.92A>G r.(?) p.(Asn31Ser)
?/? c.170G>A r.(?) p.(Cys57Tyr)
?/? c.200A>T r.(?) p.(Asp67Val)
?/? c.219C>G r.(=) p.(=)
?/? c.232-31A>G r.(=) p.(=)
?/? c.251A>G r.(?) p.(Tyr84Cys)
?/? c.383-31T>G r.(=) p.(=)
?/? c.383-30A>G r.(=) p.(=)
?/? c.383-25A>G r.(=) p.(=)
?/? c.383-4A>G r.spl? p.?
?/? c.404G>A r.(?) p.(Arg135Gln)
?/? c.417G>A r.(=) p.(=)
?/? c.481T>C r.(?) p.(Tyr161His)
?/? c.487C>T r.(?) p.(Arg163Trp)
?/? c.589A>G r.(?) p.(Met197Val)
?/? c.618C>T r.(=) p.(=)
?/? c.625C>T r.(?) p.(Pro209Ser)
?/? c.631C>T r.(?) p.(Arg211Cys)
?/? c.632G>A r.(?) p.(Arg211His)
?/? c.733G>A r.(?) p.(Asp245Asn)
?/? c.737G>A r.(?) p.(Arg246His)
?/? c.815G>A r.(?) p.(Arg272Gln)
?/? c.838C>T r.(?) p.(Arg280Trp)
?/? c.858+39G>A r.(=) p.(=)
?/? c.914A>G r.(?) p.(Asn305Ser)
?/? c.920A>G r.(?) p.(Tyr307Cys)
?/? c.960C>T r.(=) p.(=)
?/? c.972+2G>A r.spl? p.?
?/? c.973-31T>A r.(=) p.(=)
?/? c.975A>G r.(=) p.(=)
?/? c.1017C>G r.(=) p.(=)
?/? c.1111+36A>C r.(=) p.(=)
?/? c.1213C>T r.(?) p.(Arg405Cys)
?/? c.1214G>A r.(?) p.(Arg405His)
?/? c.1244A>G r.(?) p.(His415Arg)
?/? c.1260G>T r.(?) p.(Lys420Asn)
?/? c.1280+16A>G r.(=) p.(=)
?/? c.1280+29G>T r.(=) p.(=)
?/? c.1281-24_1281-21del r.(=) p.(=)
?/? c.1289C>A r.(?) p.(Ser430Tyr)
?/? c.1292A>G r.(?) p.(Lys431Arg)
?/? c.1337G>A r.(?) p.(Cys446Tyr)
?/? c.1344C>T r.(=) p.(=)
?/? c.1356G>A r.(?) p.(Met452Ile)
?/? c.1377C>T r.(=) p.(=)
?/? c.1410A>G r.(?) p.(Ile470Met)
?/? c.1423+24A>G r.(=) p.(=)
?/? c.1424-36A>C r.(=) p.(=)
?/? c.1456C>T r.(?) p.(Arg486Cys)
?/? c.1457G>A r.(?) p.(Arg486His)
?/? c.1459G>A r.(?) p.(Val487Ile)
?/? c.1516G>A r.(?) p.(Glu506Lys)
?/? c.1519G>C r.(?) p.(Glu507Gln)
?/? c.1538C>T r.(?) p.(Thr513Met)
?/? c.1574A>G r.(?) p.(Asn525Ser)
?/? c.1620+44C>T r.(=) p.(=)
?/? c.1620+45G>A r.(=) p.(=)
?/? c.1696G>A r.(?) p.(Val566Ile)
?/? c.1752-34T>C r.(=) p.(=)
?/? c.1782C>A r.(?) p.(Asn594Lys)
?/? c.1786G>A r.(?) p.(Ala596Thr)
?/? c.1813C>T r.(?) p.(Arg605Cys)
?/? c.1861A>G r.(?) p.(Ile621Val)
?/? c.1863C>T r.(=) p.(=)
?/? c.1875C>T r.(=) p.(=)
?/? c.1883T>G r.(?) p.(Phe628Cys)
?/? c.1950-44G>A r.(=) p.(=)
?/? c.1950-39C>A r.(=) p.(=)
?/? c.1950-26del r.(=) p.(=)
?/? c.1973A>G r.(?) p.(Asp658Gly)
?/? c.2023C>T r.(=) p.(=)
?/? c.2064A>G r.(=) p.(=)
?/? c.2148+15T>C r.(=) p.(=)
?/? c.2160T>C r.(=) p.(=)
?/? c.2192C>T r.(?) p.(Ala731Val)
?/? c.2214C>G r.(=) p.(=)
?/? c.2241G>C r.(?) p.(Glu747Asp)
?/? c.*30T>G r.(=) p.(=)
?/? c.*42A>G r.(=) p.(=)
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