Canonical Allele Identifier: CA5050763

Gene: GBA2

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.35748405G>C , CM000671.2:g.35748405G>C	GRCh38
NC_000009.11:g.35748402G>C , CM000671.1:g.35748402G>C	GRCh37
NC_000009.10:g.35738402G>C	NCBI36
NG_033899.1:g.5824C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_020944.3:c.300C>G MANE Select	NP_065995.1:p.Pro100=
ENST00000378103.7:c.300C>G MANE Select	ENSP00000367343.3:p.Pro100=
NM_001330660.1:c.300C>G	NP_001317589.1:p.Pro100=
NM_001330660.2:c.300C>G	NP_001317589.1:p.Pro100=
NM_020944.2:c.300C>G	NP_065995.1:p.Pro100=
ENST00000378094.4:c.300C>G	ENSP00000367334.4:p.Pro100=
ENST00000489025.1:n.569C>G
XM_005251526.3:c.300C>G	XP_005251583.1:p.Pro100=
XM_005251526.5:c.300C>G	XP_005251583.1:p.Pro100=
XM_006716809.2:c.300C>G	XP_006716872.1:p.Pro100=
XM_006716809.4:c.300C>G	XP_006716872.1:p.Pro100=
XM_011517969.1:c.300C>G	XP_011516271.1:p.Pro100=
XM_011517970.1:c.300C>G	XP_011516272.1:p.Pro100=
XM_011517971.1:c.300C>G	XP_011516273.1:p.Pro100=
XM_011517972.1:c.300C>G	XP_011516274.1:p.Pro100=
XM_011517973.1:c.300C>G	XP_011516275.1:p.Pro100=
XM_011517974.1:c.300C>G	XP_011516276.1:p.Pro100=
XM_011517975.1:c.-149C>G	XP_011516277.1:n.-149C>G
XM_011517976.1:c.-149C>G	XP_011516278.1:n.-149C>G
XM_017014937.2:c.300C>G	XP_016870426.1:p.Pro100=
XM_017014938.2:c.300C>G	XP_016870427.1:p.Pro100=
XM_017014939.2:c.300C>G	XP_016870428.1:p.Pro100=
XM_017014940.2:c.300C>G	XP_016870429.1:p.Pro100=
XM_017014941.2:c.300C>G	XP_016870430.1:p.Pro100=
XM_017014942.2:c.-149C>G	XP_016870431.1:n.-149C>G
XM_017014943.2:c.-149C>G	XP_016870432.1:n.-149C>G
XM_017014946.2:c.-613C>G	XP_016870435.1:n.-613C>G