Canonical Allele Identifier: CA5050809

Gene: GBA2

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.35748704T>A , CM000671.2:g.35748704T>A	GRCh38
NC_000009.11:g.35748701T>A , CM000671.1:g.35748701T>A	GRCh37
NC_000009.10:g.35738701T>A	NCBI36
NG_033899.1:g.5525A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020944.3:c.1A>T MANE Select	NP_065995.1:p.Met1Leu
ENST00000378103.7:c.1A>T MANE Select	ENSP00000367343.3:p.Met1Leu
NM_001330660.1:c.1A>T	NP_001317589.1:p.Met1Leu
NM_001330660.2:c.1A>T	NP_001317589.1:p.Met1Leu
NM_020944.2:c.1A>T	NP_065995.1:p.Met1Leu
ENST00000378094.4:c.1A>T	ENSP00000367334.4:p.Met1Leu
ENST00000489025.1:n.270A>T
XM_005251526.3:c.1A>T	XP_005251583.1:p.Met1Leu
XM_005251526.5:c.1A>T	XP_005251583.1:p.Met1Leu
XM_006716809.2:c.1A>T	XP_006716872.1:p.Met1Leu
XM_006716809.4:c.1A>T	XP_006716872.1:p.Met1Leu
XM_011517969.1:c.1A>T	XP_011516271.1:p.Met1Leu
XM_011517970.1:c.1A>T	XP_011516272.1:p.Met1Leu
XM_011517971.1:c.1A>T	XP_011516273.1:p.Met1Leu
XM_011517972.1:c.1A>T	XP_011516274.1:p.Met1Leu
XM_011517973.1:c.1A>T	XP_011516275.1:p.Met1Leu
XM_011517974.1:c.1A>T	XP_011516276.1:p.Met1Leu
XM_011517975.1:c.-448A>T	XP_011516277.1:n.-448A>T
XM_011517976.1:c.-448A>T	XP_011516278.1:n.-448A>T
XM_017014937.2:c.1A>T	XP_016870426.1:p.Met1Leu
XM_017014938.2:c.1A>T	XP_016870427.1:p.Met1Leu
XM_017014939.2:c.1A>T	XP_016870428.1:p.Met1Leu
XM_017014940.2:c.1A>T	XP_016870429.1:p.Met1Leu
XM_017014941.2:c.1A>T	XP_016870430.1:p.Met1Leu
XM_017014942.2:c.-448A>T	XP_016870431.1:n.-448A>T
XM_017014943.2:c.-448A>T	XP_016870432.1:n.-448A>T
XM_017014946.2:c.-912A>T	XP_016870435.1:n.-912A>T