Canonical Allele Identifier: CA2573136160

Gene: ATP2B2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10385314del , CM000665.2:g.10385314del	GRCh38
NC_000003.11:g.10426998del , CM000665.1:g.10426998del	GRCh37
NC_000003.10:g.10401998del	NCBI36
NG_012046.1:g.125272del
NG_012046.2:g.327719del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644807.2:c.907+2964del	ENSP00000495228.1:n.907+2964del
ENST00000352432.9:c.922del	ENSP00000324172.6:p.Ala308GlnfsTer13
ENST00000360273.7:c.955del MANE Select	ENSP00000353414.2:p.Ala319GlnfsTer13
ENST00000397077.6:c.907+2964del	ENSP00000380267.1:n.907+2964del
ENST00000452124.2:c.907+2964del	ENSP00000414854.2:n.907+2964del
ENST00000638646.2:c.907+2964del	ENSP00000492732.2:n.907+2964del
ENST00000643662.1:c.907+2964del	ENSP00000495924.1:n.907+2964del
ENST00000644553.1:c.214del	ENSP00000494004.1:p.Ala72GlnfsTer13
ENST00000644807.1:c.907+2964del	ENSP00000495228.1:n.907+2964del
ENST00000645850.1:c.955del	ENSP00000494716.1:p.Ala319GlnfsTer13
ENST00000646379.1:c.907+2964del	ENSP00000494381.1:n.907+2964del
ENST00000352432.8:c.955del	ENSP00000324172.5:p.Ala319GlnfsTer13
ENST00000360273.6:c.955del	ENSP00000353414.2:p.Ala319GlnfsTer13
ENST00000383800.8:c.907+2964del	ENSP00000373311.4:n.907+2964del
ENST00000397077.5:c.907+2964del	ENSP00000380267.1:n.907+2964del
ENST00000452124.1:c.568+2964del	ENSP00000414854.1:n.568+2964del
ENST00000460129.5:c.907+2964del	ENSP00000424494.1:n.907+2964del
NM_001001331.2:c.955del	NP_001001331.1:p.Ala319GlnfsTer13
NM_001683.3:c.907+2964del	NP_001674.2:n.907+2964del
XM_005265179.3:c.955del	XP_005265236.1:p.Ala319GlnfsTer13
XM_006713175.2:c.955del	XP_006713238.1:p.Ala319GlnfsTer13
XM_011533751.1:c.955del	XP_011532053.1:p.Ala319GlnfsTer13
XM_011533752.1:c.955del	XP_011532054.1:p.Ala319GlnfsTer13
XM_011533753.1:c.922del	XP_011532055.1:p.Ala308GlnfsTer13
XM_011533754.1:c.907+2964del	XP_011532056.1:n.907+2964del
XM_011533755.1:c.955del	XP_011532057.1:p.Ala319GlnfsTer13
XM_011533756.1:c.955del	XP_011532058.1:p.Ala319GlnfsTer13
XM_011533757.1:c.907+2964del	XP_011532059.1:n.907+2964del
XM_011533758.1:c.907+2964del	XP_011532060.1:n.907+2964del
XM_011533759.1:c.-29+2965del	XP_011532061.1:n.-29+2965del
NM_001001331.3:c.955del	NP_001001331.1:p.Ala319GlnfsTer13
NM_001330611.2:c.907+2964del	NP_001317540.1:n.907+2964del
NM_001353564.1:c.907+2964del	NP_001340493.1:n.907+2964del
NM_001363862.1:c.907+2964del	NP_001350791.1:n.907+2964del
NM_001683.4:c.907+2964del	NP_001674.2:n.907+2964del
XM_005265179.5:c.955del	XP_005265236.1:p.Ala319GlnfsTer13
XM_006713175.4:c.955del	XP_006713238.1:p.Ala319GlnfsTer13
XM_011533752.3:c.955del	XP_011532054.1:p.Ala319GlnfsTer13
XM_017006481.2:c.955del	XP_016861970.1:p.Ala319GlnfsTer13
XM_017006482.2:c.955del	XP_016861971.1:p.Ala319GlnfsTer13
XM_017006483.2:c.907+2964del	XP_016861972.1:n.907+2964del
XM_017006484.2:c.907+2964del	XP_016861973.1:n.907+2964del
XM_017006485.2:c.955del	XP_016861974.1:p.Ala319GlnfsTer13
XM_017006486.2:c.955del	XP_016861975.1:p.Ala319GlnfsTer13
XM_017006487.1:c.907+2964del	XP_016861976.1:n.907+2964del
XM_017006488.2:c.907+2964del	XP_016861977.1:n.907+2964del
XM_017006489.2:c.907+2964del	XP_016861978.1:n.907+2964del
XM_017006492.2:c.955del	XP_016861981.1:p.Ala319GlnfsTer13
NM_001001331.4:c.955del MANE Select	NP_001001331.1:p.Ala319GlnfsTer13
NM_001330611.3:c.907+2964del	NP_001317540.1:n.907+2964del
NM_001683.5:c.907+2964del	NP_001674.2:n.907+2964del