Canonical Allele Identifier: CA130876

Gene: GBA2

Linked Data

• ClinVar Variation Id: 41489
• ClinVar RCV Id: RCV000034373 ; RCV001043691
• dbSNP Id: rs398123014
• ExAC: 9:35740830 G / A
• gnomAD v2: 9-35740830-G-A
• gnomAD v3: 9-35740833-G-A
• gnomAD v4: 9-35740833-G-A
• MyVariant Identifiers: chr9:g.35740830G>A (hg19) ; chr9:g.35740833G>A (hg38)
• PubMed: PMID:23332917

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.35740833G>A , CM000671.2:g.35740833G>A	GRCh38
NC_000009.11:g.35740830G>A , CM000671.1:g.35740830G>A	GRCh37
NC_000009.10:g.35730830G>A	NCBI36
NG_033899.1:g.13396C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000378094.4:c.1018C>T	ENSP00000367334.4:p.Arg340Ter
ENST00000378103.7:c.1018C>T MANE Select	ENSP00000367343.3:p.Arg340Ter
ENST00000467252.5:n.590C>T
NM_020944.2:c.1018C>T	NP_065995.1:p.Arg340Ter
XM_005251526.3:c.1036C>T	XP_005251583.1:p.Arg346Ter
XM_006716809.2:c.1036C>T	XP_006716872.1:p.Arg346Ter
XM_011517969.1:c.1036C>T	XP_011516271.1:p.Arg346Ter
XM_011517970.1:c.1018C>T	XP_011516272.1:p.Arg340Ter
XM_011517971.1:c.1036C>T	XP_011516273.1:p.Arg346Ter
XM_011517972.1:c.1036C>T	XP_011516274.1:p.Arg346Ter
XM_011517973.1:c.1018C>T	XP_011516275.1:p.Arg340Ter
XM_011517974.1:c.799C>T	XP_011516276.1:p.Arg267Ter
XM_011517975.1:c.583C>T	XP_011516277.1:p.Arg195Ter
XM_011517976.1:c.565C>T	XP_011516278.1:p.Arg189Ter
XM_011517977.1:c.481C>T	XP_011516279.1:p.Arg161Ter
XM_011517978.1:c.463C>T	XP_011516280.1:p.Arg155Ter
XM_011517979.1:c.463C>T	XP_011516281.1:p.Arg155Ter
NM_001330660.1:c.1018C>T	NP_001317589.1:p.Arg340Ter
XM_005251526.5:c.1036C>T	XP_005251583.1:p.Arg346Ter
XM_006716809.4:c.1036C>T	XP_006716872.1:p.Arg346Ter
XM_017014937.2:c.1018C>T	XP_016870426.1:p.Arg340Ter
XM_017014938.2:c.1036C>T	XP_016870427.1:p.Arg346Ter
XM_017014939.2:c.1018C>T	XP_016870428.1:p.Arg340Ter
XM_017014940.2:c.799C>T	XP_016870429.1:p.Arg267Ter
XM_017014941.2:c.799C>T	XP_016870430.1:p.Arg267Ter
XM_017014942.2:c.583C>T	XP_016870431.1:p.Arg195Ter
XM_017014943.2:c.565C>T	XP_016870432.1:p.Arg189Ter
XM_017014944.1:c.481C>T	XP_016870433.1:p.Arg161Ter
XM_017014945.1:c.463C>T	XP_016870434.1:p.Arg155Ter
XM_017014946.2:c.157C>T	XP_016870435.1:p.Arg53Ter
NM_020944.3:c.1018C>T MANE Select	NP_065995.1:p.Arg340Ter
NM_001330660.2:c.1018C>T	NP_001317589.1:p.Arg340Ter