Canonical Allele Identifier: CA2253568

Gene: ATP2B2

Linked Data

• ClinVar Variation Id: 713342
• ClinVar RCV Id: RCV004530931 ; RCV000885465
• dbSNP Id: rs150683478
• ExAC: 3:10401618 C / T
• gnomAD v2: 3-10401618-C-T
• gnomAD v3: 3-10359934-C-T
• gnomAD v4: 3-10359934-C-T
• MyVariant Identifiers: chr3:g.10401618C>T (hg19) ; chr3:g.10359934C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10359934C>T , CM000665.2:g.10359934C>T	GRCh38
NC_000003.11:g.10401618C>T , CM000665.1:g.10401618C>T	GRCh37
NC_000003.10:g.10376618C>T	NCBI36
NG_012046.1:g.150651G>A
NG_012046.2:g.353098G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644807.2:c.1714G>A	ENSP00000495228.1:p.Asp572Asn
ENST00000352432.9:c.1816G>A	ENSP00000324172.6:p.Asp606Asn
ENST00000360273.7:c.1849G>A MANE Select	ENSP00000353414.2:p.Asp617Asn
ENST00000397077.6:c.1714G>A	ENSP00000380267.1:p.Asp572Asn
ENST00000452124.2:c.1756G>A	ENSP00000414854.2:p.Asp586Asn
ENST00000638646.2:c.1714G>A	ENSP00000492732.2:p.Asp572Asn
ENST00000643662.1:c.1756G>A	ENSP00000495924.1:p.Asp586Asn
ENST00000644553.1:c.1108G>A	ENSP00000494004.1:p.Asp370Asn
ENST00000644807.1:c.1714G>A	ENSP00000495228.1:p.Asp572Asn
ENST00000645850.1:c.1849G>A	ENSP00000494716.1:p.Asp617Asn
ENST00000646379.1:c.1714G>A	ENSP00000494381.1:p.Asp572Asn
ENST00000352432.8:c.1849G>A	ENSP00000324172.5:p.Asp617Asn
ENST00000360273.6:c.1849G>A	ENSP00000353414.2:p.Asp617Asn
ENST00000383800.8:c.1714G>A	ENSP00000373311.4:p.Asp572Asn
ENST00000397077.5:c.1714G>A	ENSP00000380267.1:p.Asp572Asn
ENST00000452124.1:c.1417G>A	ENSP00000414854.1:p.Asp473Asn
ENST00000460129.5:c.1714G>A	ENSP00000424494.1:p.Asp572Asn
NM_001001331.2:c.1849G>A	NP_001001331.1:p.Asp617Asn
NM_001683.3:c.1714G>A	NP_001674.2:p.Asp572Asn
XM_005265179.3:c.1849G>A	XP_005265236.1:p.Asp617Asn
XM_006713175.2:c.1849G>A	XP_006713238.1:p.Asp617Asn
XM_011533751.1:c.1849G>A	XP_011532053.1:p.Asp617Asn
XM_011533752.1:c.1849G>A	XP_011532054.1:p.Asp617Asn
XM_011533753.1:c.1816G>A	XP_011532055.1:p.Asp606Asn
XM_011533754.1:c.1756G>A	XP_011532056.1:p.Asp586Asn
XM_011533755.1:c.1849G>A	XP_011532057.1:p.Asp617Asn
XM_011533756.1:c.1849G>A	XP_011532058.1:p.Asp617Asn
XM_011533757.1:c.1714G>A	XP_011532059.1:p.Asp572Asn
XM_011533758.1:c.1756G>A	XP_011532060.1:p.Asp586Asn
XM_011533759.1:c.781G>A	XP_011532061.1:p.Asp261Asn
NM_001001331.3:c.1849G>A	NP_001001331.1:p.Asp617Asn
NM_001330611.2:c.1714G>A	NP_001317540.1:p.Asp572Asn
NM_001353564.1:c.1714G>A	NP_001340493.1:p.Asp572Asn
NM_001363862.1:c.1714G>A	NP_001350791.1:p.Asp572Asn
NM_001683.4:c.1714G>A	NP_001674.2:p.Asp572Asn
XM_005265179.5:c.1849G>A	XP_005265236.1:p.Asp617Asn
XM_006713175.4:c.1849G>A	XP_006713238.1:p.Asp617Asn
XM_011533752.3:c.1849G>A	XP_011532054.1:p.Asp617Asn
XM_017006481.2:c.1849G>A	XP_016861970.1:p.Asp617Asn
XM_017006482.2:c.1849G>A	XP_016861971.1:p.Asp617Asn
XM_017006483.2:c.1756G>A	XP_016861972.1:p.Asp586Asn
XM_017006484.2:c.1756G>A	XP_016861973.1:p.Asp586Asn
XM_017006485.2:c.1849G>A	XP_016861974.1:p.Asp617Asn
XM_017006486.2:c.1849G>A	XP_016861975.1:p.Asp617Asn
XM_017006487.1:c.1714G>A	XP_016861976.1:p.Asp572Asn
XM_017006488.2:c.1756G>A	XP_016861977.1:p.Asp586Asn
XM_017006489.2:c.1756G>A	XP_016861978.1:p.Asp586Asn
XM_017006492.2:c.1849G>A	XP_016861981.1:p.Asp617Asn
NM_001001331.4:c.1849G>A MANE Select	NP_001001331.1:p.Asp617Asn
NM_001330611.3:c.1714G>A	NP_001317540.1:p.Asp572Asn
NM_001683.5:c.1714G>A	NP_001674.2:p.Asp572Asn