Canonical Allele Identifier: CA5050265

Gene: GBA2

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.35738851A>G , CM000671.2:g.35738851A>G	GRCh38
NC_000009.11:g.35738848A>G , CM000671.1:g.35738848A>G	GRCh37
NC_000009.10:g.35728848A>G	NCBI36
NG_033899.1:g.15378T>C
NG_046983.1:g.11532A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_020944.3:c.1848T>C MANE Select	NP_065995.1:p.Asp616=
ENST00000378103.7:c.1848T>C MANE Select	ENSP00000367343.3:p.Asp616=
NM_001330660.1:c.1848T>C	NP_001317589.1:p.Asp616=
NM_001330660.2:c.1848T>C	NP_001317589.1:p.Asp616=
NM_020944.2:c.1848T>C	NP_065995.1:p.Asp616=
ENST00000378094.4:c.1848T>C	ENSP00000367334.4:p.Asp616=
ENST00000467252.5:n.1420T>C
ENST00000486797.1:n.93T>C
ENST00000488292.1:n.162T>C
XM_005251526.3:c.1866T>C	XP_005251583.1:p.Asp622=
XM_005251526.5:c.1866T>C	XP_005251583.1:p.Asp622=
XM_006716809.2:c.1866T>C	XP_006716872.1:p.Asp622=
XM_006716809.4:c.1866T>C	XP_006716872.1:p.Asp622=
XM_011517969.1:c.1884T>C	XP_011516271.1:p.Asp628=
XM_011517970.1:c.1866T>C	XP_011516272.1:p.Asp622=
XM_011517971.1:c.1884T>C	XP_011516273.1:p.Asp628=
XM_011517972.1:c.1884T>C	XP_011516274.1:p.Asp628=
XM_011517973.1:c.1848T>C	XP_011516275.1:p.Asp616=
XM_011517974.1:c.1647T>C	XP_011516276.1:p.Asp549=
XM_011517975.1:c.1431T>C	XP_011516277.1:p.Asp477=
XM_011517976.1:c.1413T>C	XP_011516278.1:p.Asp471=
XM_011517977.1:c.1329T>C	XP_011516279.1:p.Asp443=
XM_011517978.1:c.1311T>C	XP_011516280.1:p.Asp437=
XM_011517979.1:c.1311T>C	XP_011516281.1:p.Asp437=
XM_017014937.2:c.1848T>C	XP_016870426.1:p.Asp616=
XM_017014938.2:c.1866T>C	XP_016870427.1:p.Asp622=
XM_017014939.2:c.1848T>C	XP_016870428.1:p.Asp616=
XM_017014940.2:c.1629T>C	XP_016870429.1:p.Asp543=
XM_017014941.2:c.1629T>C	XP_016870430.1:p.Asp543=
XM_017014942.2:c.1413T>C	XP_016870431.1:p.Asp471=
XM_017014943.2:c.1395T>C	XP_016870432.1:p.Asp465=
XM_017014944.1:c.1311T>C	XP_016870433.1:p.Asp437=
XM_017014945.1:c.1293T>C	XP_016870434.1:p.Asp431=
XM_017014946.2:c.987T>C	XP_016870435.1:p.Asp329=