CELA2B chymotrypsin like elastase 2B

Canonical transcript: NM_015849

12 unique variant annotations were identified in 16 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
1-15808767-G-A c.235G>A p.Gly79Arg Missense 4/8 - 4
1-15808872-G-A c.340G>A p.Asp114Asn Missense 4/8 - 7
1-15809876-G-A c.474G>A p.Thr158Thr Synonymous 5/8 - 1
1-15810624-T-C c.493+729T>C - IntronicSNV - 5/7 2
1-15812432-A-G c.530A>G p.Gln177Arg Missense 6/8 - 2
1-15812477-G-A c.575G>A p.Trp192* Nonsense 6/8 - 1
1-15812478-G-A c.576G>A p.Trp192* Nonsense 6/8 - 1
1-15812542-G-A c.639+1G>A - IntronicSNV - 6/7 1
1-15812665-G-T c.639+124G>T - IntronicSNV - 6/7 4
1-15813879-T-C c.739T>C p.Tyr247His Missense 7/8 - 1
1-15814186-C-T c.792+254C>T - IntronicSNV - 7/7 1
1-15815579-G-A c.792+1647G>A - IntronicSNV - 7/7 1