Canonical Allele Identifier: CA373411530

Gene: GBA2

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.35739400G>T , CM000671.2:g.35739400G>T	GRCh38
NC_000009.11:g.35739397G>T , CM000671.1:g.35739397G>T	GRCh37
NC_000009.10:g.35729397G>T	NCBI36
NG_033899.1:g.14829C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_020944.3:c.1602C>A MANE Select	NP_065995.1:p.Tyr534Ter
ENST00000378103.7:c.1602C>A MANE Select	ENSP00000367343.3:p.Tyr534Ter
NM_001330660.1:c.1602C>A	NP_001317589.1:p.Tyr534Ter
NM_001330660.2:c.1602C>A	NP_001317589.1:p.Tyr534Ter
NM_020944.2:c.1602C>A	NP_065995.1:p.Tyr534Ter
ENST00000378094.4:c.1602C>A	ENSP00000367334.4:p.Tyr534Ter
ENST00000467252.5:n.1174C>A
XM_005251526.3:c.1620C>A	XP_005251583.1:p.Tyr540Ter
XM_005251526.5:c.1620C>A	XP_005251583.1:p.Tyr540Ter
XM_006716809.2:c.1620C>A	XP_006716872.1:p.Tyr540Ter
XM_006716809.4:c.1620C>A	XP_006716872.1:p.Tyr540Ter
XM_011517969.1:c.1620C>A	XP_011516271.1:p.Tyr540Ter
XM_011517970.1:c.1602C>A	XP_011516272.1:p.Tyr534Ter
XM_011517971.1:c.1620C>A	XP_011516273.1:p.Tyr540Ter
XM_011517972.1:c.1620C>A	XP_011516274.1:p.Tyr540Ter
XM_011517973.1:c.1602C>A	XP_011516275.1:p.Tyr534Ter
XM_011517974.1:c.1383C>A	XP_011516276.1:p.Tyr461Ter
XM_011517975.1:c.1167C>A	XP_011516277.1:p.Tyr389Ter
XM_011517976.1:c.1149C>A	XP_011516278.1:p.Tyr383Ter
XM_011517977.1:c.1065C>A	XP_011516279.1:p.Tyr355Ter
XM_011517978.1:c.1047C>A	XP_011516280.1:p.Tyr349Ter
XM_011517979.1:c.1047C>A	XP_011516281.1:p.Tyr349Ter
XM_017014937.2:c.1602C>A	XP_016870426.1:p.Tyr534Ter
XM_017014938.2:c.1620C>A	XP_016870427.1:p.Tyr540Ter
XM_017014939.2:c.1602C>A	XP_016870428.1:p.Tyr534Ter
XM_017014940.2:c.1383C>A	XP_016870429.1:p.Tyr461Ter
XM_017014941.2:c.1383C>A	XP_016870430.1:p.Tyr461Ter
XM_017014942.2:c.1167C>A	XP_016870431.1:p.Tyr389Ter
XM_017014943.2:c.1149C>A	XP_016870432.1:p.Tyr383Ter
XM_017014944.1:c.1065C>A	XP_016870433.1:p.Tyr355Ter
XM_017014945.1:c.1047C>A	XP_016870434.1:p.Tyr349Ter
XM_017014946.2:c.741C>A	XP_016870435.1:p.Tyr247Ter