Canonical Allele Identifier: CA5050309

Gene: GBA2

Linked Data

• ClinVar Variation Id: 444770
• ClinVar RCV Id: RCV000513107 ; RCV001078835 ; RCV001848879
• dbSNP Id: rs754147042
• ExAC: 9:35739114 A / G
• gnomAD v2: 9-35739114-A-G
• gnomAD v3: 9-35739117-A-G
• gnomAD v4: 9-35739117-A-G
• MyVariant Identifiers: chr9:g.35739114A>G (hg19) ; chr9:g.35739117A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.35739117A>G , CM000671.2:g.35739117A>G	GRCh38
NC_000009.11:g.35739114A>G , CM000671.1:g.35739114A>G	GRCh37
NC_000009.10:g.35729114A>G	NCBI36
NG_033899.1:g.15112T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378094.4:c.1688-8T>C	ENSP00000367334.4:n.1688-8T>C
ENST00000378103.7:c.1688-8T>C MANE Select	ENSP00000367343.3:n.1688-8T>C
ENST00000467252.5:n.1260-8T>C
NM_020944.2:c.1688-8T>C	NP_065995.1:n.1688-8T>C
XM_005251526.3:c.1706-8T>C	XP_005251583.1:n.1706-8T>C
XM_006716809.2:c.1706-8T>C	XP_006716872.1:n.1706-8T>C
XM_011517969.1:c.1706-8T>C	XP_011516271.1:n.1706-8T>C
XM_011517970.1:c.1688-8T>C	XP_011516272.1:n.1688-8T>C
XM_011517971.1:c.1706-8T>C	XP_011516273.1:n.1706-8T>C
XM_011517972.1:c.1706-8T>C	XP_011516274.1:n.1706-8T>C
XM_011517973.1:c.1688-8T>C	XP_011516275.1:n.1688-8T>C
XM_011517974.1:c.1469-8T>C	XP_011516276.1:n.1469-8T>C
XM_011517975.1:c.1253-8T>C	XP_011516277.1:n.1253-8T>C
XM_011517976.1:c.1235-8T>C	XP_011516278.1:n.1235-8T>C
XM_011517977.1:c.1151-8T>C	XP_011516279.1:n.1151-8T>C
XM_011517978.1:c.1133-8T>C	XP_011516280.1:n.1133-8T>C
XM_011517979.1:c.1133-8T>C	XP_011516281.1:n.1133-8T>C
NM_001330660.1:c.1688-8T>C	NP_001317589.1:n.1688-8T>C
XM_005251526.5:c.1706-8T>C	XP_005251583.1:n.1706-8T>C
XM_006716809.4:c.1706-8T>C	XP_006716872.1:n.1706-8T>C
XM_017014937.2:c.1688-8T>C	XP_016870426.1:n.1688-8T>C
XM_017014938.2:c.1706-8T>C	XP_016870427.1:n.1706-8T>C
XM_017014939.2:c.1688-8T>C	XP_016870428.1:n.1688-8T>C
XM_017014940.2:c.1469-8T>C	XP_016870429.1:n.1469-8T>C
XM_017014941.2:c.1469-8T>C	XP_016870430.1:n.1469-8T>C
XM_017014942.2:c.1253-8T>C	XP_016870431.1:n.1253-8T>C
XM_017014943.2:c.1235-8T>C	XP_016870432.1:n.1235-8T>C
XM_017014944.1:c.1151-8T>C	XP_016870433.1:n.1151-8T>C
XM_017014945.1:c.1133-8T>C	XP_016870434.1:n.1133-8T>C
XM_017014946.2:c.827-8T>C	XP_016870435.1:n.827-8T>C
NM_020944.3:c.1688-8T>C MANE Select	NP_065995.1:n.1688-8T>C
NM_001330660.2:c.1688-8T>C	NP_001317589.1:n.1688-8T>C