Canonical Allele Identifier: CA5050028

Gene: GBA2

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.35737336G>A , CM000671.2:g.35737336G>A	GRCh38
NC_000009.11:g.35737333G>A , CM000671.1:g.35737333G>A	GRCh37
NC_000009.10:g.35727333G>A	NCBI36
NG_033899.1:g.16893C>T
NG_046983.1:g.10017G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_020944.3:c.2617C>T MANE Select	NP_065995.1:p.Arg873Cys
ENST00000378103.7:c.2617C>T MANE Select	ENSP00000367343.3:p.Arg873Cys
NM_001330660.1:c.*140C>T	NP_001317589.1:n.*140C>T
NM_001330660.2:c.*140C>T	NP_001317589.1:n.*140C>T
NM_020944.2:c.2617C>T	NP_065995.1:p.Arg873Cys
ENST00000378088.1:c.*301C>T	ENSP00000367328.1:n.*301C>T
ENST00000378094.4:c.*140C>T	ENSP00000367334.4:n.*140C>T
XM_005251526.3:c.2569C>T	XP_005251583.1:p.Arg857Cys
XM_005251526.5:c.2569C>T	XP_005251583.1:p.Arg857Cys
XM_006716809.2:c.2635C>T	XP_006716872.1:p.Arg879Cys
XM_006716809.4:c.2635C>T	XP_006716872.1:p.Arg879Cys
XM_011517969.1:c.2653C>T	XP_011516271.1:p.Arg885Cys
XM_011517970.1:c.2635C>T	XP_011516272.1:p.Arg879Cys
XM_011517971.1:c.2587C>T	XP_011516273.1:p.Arg863Cys
XM_011517972.1:c.*140C>T	XP_011516274.1:n.*140C>T
XM_011517973.1:c.*140C>T	XP_011516275.1:n.*140C>T
XM_011517974.1:c.2416C>T	XP_011516276.1:p.Arg806Cys
XM_011517975.1:c.2200C>T	XP_011516277.1:p.Arg734Cys
XM_011517976.1:c.2182C>T	XP_011516278.1:p.Arg728Cys
XM_011517977.1:c.2098C>T	XP_011516279.1:p.Arg700Cys
XM_011517978.1:c.2080C>T	XP_011516280.1:p.Arg694Cys
XM_011517979.1:c.2080C>T	XP_011516281.1:p.Arg694Cys
XM_017014937.2:c.2551C>T	XP_016870426.1:p.Arg851Cys
XM_017014938.2:c.*140C>T	XP_016870427.1:n.*140C>T
XM_017014939.2:c.*140C>T	XP_016870428.1:n.*140C>T
XM_017014940.2:c.2398C>T	XP_016870429.1:p.Arg800Cys
XM_017014941.2:c.*140C>T	XP_016870430.1:n.*140C>T
XM_017014942.2:c.2182C>T	XP_016870431.1:p.Arg728Cys
XM_017014943.2:c.2164C>T	XP_016870432.1:p.Arg722Cys
XM_017014944.1:c.2080C>T	XP_016870433.1:p.Arg694Cys
XM_017014945.1:c.2062C>T	XP_016870434.1:p.Arg688Cys
XM_017014946.2:c.1756C>T	XP_016870435.1:p.Arg586Cys