Canonical Allele Identifier: CA130878

Gene: GBA2

Linked Data

• ClinVar Variation Id: 41490
• ClinVar RCV Id: RCV000034374 ; RCV000515888
• dbSNP Id: rs398123015
• gnomAD v4: 9-35737335-C-T
• MyVariant Identifiers: chr9:g.35737332C>T (hg19) ; chr9:g.35737335C>T (hg38)
• PubMed: PMID:23332917 ; PMID:28832565

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378088.1:c.*302G>A	ENSP00000367328.1:n.*302G>A
ENST00000378094.4:c.*141G>A	ENSP00000367334.4:n.*141G>A
ENST00000378103.7:c.2618G>A MANE Select	ENSP00000367343.3:p.Arg873His
NM_020944.2:c.2618G>A	NP_065995.1:p.Arg873His
XM_005251526.3:c.2570G>A	XP_005251583.1:p.Arg857His
XM_006716809.2:c.2636G>A	XP_006716872.1:p.Arg879His
XM_011517969.1:c.2654G>A	XP_011516271.1:p.Arg885His
XM_011517970.1:c.2636G>A	XP_011516272.1:p.Arg879His
XM_011517971.1:c.2588G>A	XP_011516273.1:p.Arg863His
XM_011517972.1:c.*141G>A	XP_011516274.1:n.*141G>A
XM_011517973.1:c.*141G>A	XP_011516275.1:n.*141G>A
XM_011517974.1:c.2417G>A	XP_011516276.1:p.Arg806His
XM_011517975.1:c.2201G>A	XP_011516277.1:p.Arg734His
XM_011517976.1:c.2183G>A	XP_011516278.1:p.Arg728His
XM_011517977.1:c.2099G>A	XP_011516279.1:p.Arg700His
XM_011517978.1:c.2081G>A	XP_011516280.1:p.Arg694His
XM_011517979.1:c.2081G>A	XP_011516281.1:p.Arg694His
NM_001330660.1:c.*141G>A	NP_001317589.1:n.*141G>A
XM_005251526.5:c.2570G>A	XP_005251583.1:p.Arg857His
XM_006716809.4:c.2636G>A	XP_006716872.1:p.Arg879His
XM_017014937.2:c.2552G>A	XP_016870426.1:p.Arg851His
XM_017014938.2:c.*141G>A	XP_016870427.1:n.*141G>A
XM_017014939.2:c.*141G>A	XP_016870428.1:n.*141G>A
XM_017014940.2:c.2399G>A	XP_016870429.1:p.Arg800His
XM_017014941.2:c.*141G>A	XP_016870430.1:n.*141G>A
XM_017014942.2:c.2183G>A	XP_016870431.1:p.Arg728His
XM_017014943.2:c.2165G>A	XP_016870432.1:p.Arg722His
XM_017014944.1:c.2081G>A	XP_016870433.1:p.Arg694His
XM_017014945.1:c.2063G>A	XP_016870434.1:p.Arg688His
XM_017014946.2:c.1757G>A	XP_016870435.1:p.Arg586His
NM_020944.3:c.2618G>A MANE Select	NP_065995.1:p.Arg873His
NM_001330660.2:c.*141G>A	NP_001317589.1:n.*141G>A