Canonical Allele Identifier: CA192759805

Gene: GBA2

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.35739626A>C , CM000671.2:g.35739626A>C	GRCh38
NC_000009.11:g.35739623A>C , CM000671.1:g.35739623A>C	GRCh37
NC_000009.10:g.35729623A>C	NCBI36
NG_033899.1:g.14603T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_020944.3:c.1582+2T>G MANE Select	NP_065995.1:n.1582+2T>G
ENST00000378103.7:c.1582+2T>G MANE Select	ENSP00000367343.3:n.1582+2T>G
NM_001330660.1:c.1582+2T>G	NP_001317589.1:n.1582+2T>G
NM_001330660.2:c.1582+2T>G	NP_001317589.1:n.1582+2T>G
NM_020944.2:c.1582+2T>G	NP_065995.1:n.1582+2T>G
ENST00000378094.4:c.1582+2T>G	ENSP00000367334.4:n.1582+2T>G
ENST00000467252.5:n.1154+2T>G
XM_005251526.3:c.1600+2T>G	XP_005251583.1:n.1600+2T>G
XM_005251526.5:c.1600+2T>G	XP_005251583.1:n.1600+2T>G
XM_006716809.2:c.1600+2T>G	XP_006716872.1:n.1600+2T>G
XM_006716809.4:c.1600+2T>G	XP_006716872.1:n.1600+2T>G
XM_011517969.1:c.1600+2T>G	XP_011516271.1:n.1600+2T>G
XM_011517970.1:c.1582+2T>G	XP_011516272.1:n.1582+2T>G
XM_011517971.1:c.1600+2T>G	XP_011516273.1:n.1600+2T>G
XM_011517972.1:c.1600+2T>G	XP_011516274.1:n.1600+2T>G
XM_011517973.1:c.1582+2T>G	XP_011516275.1:n.1582+2T>G
XM_011517974.1:c.1363+2T>G	XP_011516276.1:n.1363+2T>G
XM_011517975.1:c.1147+2T>G	XP_011516277.1:n.1147+2T>G
XM_011517976.1:c.1129+2T>G	XP_011516278.1:n.1129+2T>G
XM_011517977.1:c.1045+2T>G	XP_011516279.1:n.1045+2T>G
XM_011517978.1:c.1027+2T>G	XP_011516280.1:n.1027+2T>G
XM_011517979.1:c.1027+2T>G	XP_011516281.1:n.1027+2T>G
XM_017014937.2:c.1582+2T>G	XP_016870426.1:n.1582+2T>G
XM_017014938.2:c.1600+2T>G	XP_016870427.1:n.1600+2T>G
XM_017014939.2:c.1582+2T>G	XP_016870428.1:n.1582+2T>G
XM_017014940.2:c.1363+2T>G	XP_016870429.1:n.1363+2T>G
XM_017014941.2:c.1363+2T>G	XP_016870430.1:n.1363+2T>G
XM_017014942.2:c.1147+2T>G	XP_016870431.1:n.1147+2T>G
XM_017014943.2:c.1129+2T>G	XP_016870432.1:n.1129+2T>G
XM_017014944.1:c.1045+2T>G	XP_016870433.1:n.1045+2T>G
XM_017014945.1:c.1027+2T>G	XP_016870434.1:n.1027+2T>G
XM_017014946.2:c.721+2T>G	XP_016870435.1:n.721+2T>G