Canonical Allele Identifier: CA373402009

Gene: GBA2

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.35737449T>C , CM000671.2:g.35737449T>C	GRCh38
NC_000009.11:g.35737446T>C , CM000671.1:g.35737446T>C	GRCh37
NC_000009.10:g.35727446T>C	NCBI36
NG_033899.1:g.16780A>G
NG_046983.1:g.10130T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_020944.3:c.2506-2A>G MANE Select	NP_065995.1:n.2506-2A>G
ENST00000378103.7:c.2506-2A>G MANE Select	ENSP00000367343.3:n.2506-2A>G
NM_001330660.1:c.*27A>G	NP_001317589.1:n.*27A>G
NM_001330660.2:c.*27A>G	NP_001317589.1:n.*27A>G
NM_020944.2:c.2506-2A>G	NP_065995.1:n.2506-2A>G
ENST00000378088.1:c.*188A>G	ENSP00000367328.1:n.*188A>G
ENST00000378094.4:c.*27A>G	ENSP00000367334.4:n.*27A>G
XM_005251526.3:c.2458-2A>G	XP_005251583.1:n.2458-2A>G
XM_005251526.5:c.2458-2A>G	XP_005251583.1:n.2458-2A>G
XM_006716809.2:c.2524-2A>G	XP_006716872.1:n.2524-2A>G
XM_006716809.4:c.2524-2A>G	XP_006716872.1:n.2524-2A>G
XM_011517969.1:c.2542-2A>G	XP_011516271.1:n.2542-2A>G
XM_011517970.1:c.2524-2A>G	XP_011516272.1:n.2524-2A>G
XM_011517971.1:c.2476-2A>G	XP_011516273.1:n.2476-2A>G
XM_011517972.1:c.*27A>G	XP_011516274.1:n.*27A>G
XM_011517973.1:c.*27A>G	XP_011516275.1:n.*27A>G
XM_011517974.1:c.2305-2A>G	XP_011516276.1:n.2305-2A>G
XM_011517975.1:c.2089-2A>G	XP_011516277.1:n.2089-2A>G
XM_011517976.1:c.2071-2A>G	XP_011516278.1:n.2071-2A>G
XM_011517977.1:c.1987-2A>G	XP_011516279.1:n.1987-2A>G
XM_011517978.1:c.1969-2A>G	XP_011516280.1:n.1969-2A>G
XM_011517979.1:c.1969-2A>G	XP_011516281.1:n.1969-2A>G
XM_017014937.2:c.2440-2A>G	XP_016870426.1:n.2440-2A>G
XM_017014938.2:c.*27A>G	XP_016870427.1:n.*27A>G
XM_017014939.2:c.*27A>G	XP_016870428.1:n.*27A>G
XM_017014940.2:c.2287-2A>G	XP_016870429.1:n.2287-2A>G
XM_017014941.2:c.*27A>G	XP_016870430.1:n.*27A>G
XM_017014942.2:c.2071-2A>G	XP_016870431.1:n.2071-2A>G
XM_017014943.2:c.2053-2A>G	XP_016870432.1:n.2053-2A>G
XM_017014944.1:c.1969-2A>G	XP_016870433.1:n.1969-2A>G
XM_017014945.1:c.1951-2A>G	XP_016870434.1:n.1951-2A>G
XM_017014946.2:c.1645-2A>G	XP_016870435.1:n.1645-2A>G