Canonical Allele Identifier: CA1846150733

Gene: GBA2

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.35737335C= , CM000671.2:g.35737335C=	GRCh38
NC_000009.11:g.35737332C= , CM000671.1:g.35737332C=	GRCh37
NC_000009.10:g.35727332C=	NCBI36
NG_033899.1:g.16894G=
NG_046983.1:g.10016C=

Transcript Alleles

HGVS	Amino-acid Change
NM_020944.3:c.2618G= MANE Select	NP_065995.1:p.Arg873=
ENST00000378103.7:c.2618G= MANE Select	ENSP00000367343.3:p.Arg873=
NM_001330660.1:c.*141G=	NP_001317589.1:n.*141G=
NM_001330660.2:c.*141G=	NP_001317589.1:n.*141G=
NM_020944.2:c.2618G=	NP_065995.1:p.Arg873=
ENST00000378088.1:c.*302G=	ENSP00000367328.1:n.*302G=
ENST00000378094.4:c.*141G=	ENSP00000367334.4:n.*141G=
XM_005251526.3:c.2570G=	XP_005251583.1:p.Arg857=
XM_005251526.5:c.2570G=	XP_005251583.1:p.Arg857=
XM_006716809.2:c.2636G=	XP_006716872.1:p.Arg879=
XM_006716809.4:c.2636G=	XP_006716872.1:p.Arg879=
XM_011517969.1:c.2654G=	XP_011516271.1:p.Arg885=
XM_011517970.1:c.2636G=	XP_011516272.1:p.Arg879=
XM_011517971.1:c.2588G=	XP_011516273.1:p.Arg863=
XM_011517972.1:c.*141G=	XP_011516274.1:n.*141G=
XM_011517973.1:c.*141G=	XP_011516275.1:n.*141G=
XM_011517974.1:c.2417G=	XP_011516276.1:p.Arg806=
XM_011517975.1:c.2201G=	XP_011516277.1:p.Arg734=
XM_011517976.1:c.2183G=	XP_011516278.1:p.Arg728=
XM_011517977.1:c.2099G=	XP_011516279.1:p.Arg700=
XM_011517978.1:c.2081G=	XP_011516280.1:p.Arg694=
XM_011517979.1:c.2081G=	XP_011516281.1:p.Arg694=
XM_017014937.2:c.2552G=	XP_016870426.1:p.Arg851=
XM_017014938.2:c.*141G=	XP_016870427.1:n.*141G=
XM_017014939.2:c.*141G=	XP_016870428.1:n.*141G=
XM_017014940.2:c.2399G=	XP_016870429.1:p.Arg800=
XM_017014941.2:c.*141G=	XP_016870430.1:n.*141G=
XM_017014942.2:c.2183G=	XP_016870431.1:p.Arg728=
XM_017014943.2:c.2165G=	XP_016870432.1:p.Arg722=
XM_017014944.1:c.2081G=	XP_016870433.1:p.Arg694=
XM_017014945.1:c.2063G=	XP_016870434.1:p.Arg688=
XM_017014946.2:c.1757G=	XP_016870435.1:p.Arg586=