Canonical Allele Identifier: CA11350618
Gene: ATP2B2 HGNC NCBI

Linked Data

dbSNP Id: rs6807064
gnomAD v2: 3-10535771-C-T
gnomAD v3: 3-10494087-C-T
gnomAD v4: 3-10494087-C-T
MyVariant Identifiers: chr3:g.10535771C>T (hg19) chr3:g.10494087C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10494087C>T , CM000665.2:g.10494087C>T GRCh38
NC_000003.11:g.10535771C>T , CM000665.1:g.10535771C>T GRCh37
NC_000003.10:g.10510771C>T NCBI36
NG_012046.1:g.16498G>A
NG_012046.2:g.218945G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000644807.2:c.-320+11378G>A ENSP00000495228.1:n.-320+11378G>A
ENST00000360273.7:c.-320+11378G>A MANE Select ENSP00000353414.2:n.-320+11378G>A
ENST00000397077.6:c.-320+11378G>A ENSP00000380267.1:n.-320+11378G>A
ENST00000643662.1:c.-320+11378G>A ENSP00000495924.1:n.-320+11378G>A
ENST00000646379.1:c.-320+39952G>A ENSP00000494381.1:n.-320+39952G>A
ENST00000360273.6:c.-320+11378G>A ENSP00000353414.2:n.-320+11378G>A
ENST00000383800.8:c.-320+11378G>A ENSP00000373311.4:n.-320+11378G>A
ENST00000397077.5:c.-320+39952G>A ENSP00000380267.1:n.-320+39952G>A
ENST00000460129.5:c.-320+39952G>A ENSP00000424494.1:n.-320+39952G>A
ENST00000480680.2:n.120+11378G>A
NM_001001331.2:c.-320+11378G>A NP_001001331.1:n.-320+11378G>A
NM_001683.3:c.-320+11378G>A NP_001674.2:n.-320+11378G>A
XM_005265179.3:c.-320+39952G>A XP_005265236.1:n.-320+39952G>A
XM_006713175.2:c.-320+39952G>A XP_006713238.1:n.-320+39952G>A
XM_011533751.1:c.-320+39952G>A XP_011532053.1:n.-320+39952G>A
XM_011533752.1:c.-320+33659G>A XP_011532054.1:n.-320+33659G>A
XM_011533753.1:c.-320+39952G>A XP_011532055.1:n.-320+39952G>A
XM_011533754.1:c.-320+39952G>A XP_011532056.1:n.-320+39952G>A
XM_011533755.1:c.-320+39952G>A XP_011532057.1:n.-320+39952G>A
XM_011533756.1:c.-320+39952G>A XP_011532058.1:n.-320+39952G>A
XM_011533757.1:c.-320+39952G>A XP_011532059.1:n.-320+39952G>A
XM_011533758.1:c.-320+39952G>A XP_011532060.1:n.-320+39952G>A
NM_001001331.3:c.-320+11378G>A NP_001001331.1:n.-320+11378G>A
NM_001330611.2:c.-320+11378G>A NP_001317540.1:n.-320+11378G>A
NM_001353564.1:c.-320+39952G>A NP_001340493.1:n.-320+39952G>A
NM_001363862.1:c.-320+11378G>A NP_001350791.1:n.-320+11378G>A
NM_001683.4:c.-320+11378G>A NP_001674.2:n.-320+11378G>A
XM_005265179.5:c.-320+39952G>A XP_005265236.1:n.-320+39952G>A
XM_006713175.4:c.-320+39952G>A XP_006713238.1:n.-320+39952G>A
XM_011533752.3:c.-320+33659G>A XP_011532054.1:n.-320+33659G>A
XM_017006481.2:c.-320+39952G>A XP_016861970.1:n.-320+39952G>A
XM_017006483.2:c.-320+11378G>A XP_016861972.1:n.-320+11378G>A
XM_017006484.2:c.-320+39952G>A XP_016861973.1:n.-320+39952G>A
XM_017006485.2:c.-320+11378G>A XP_016861974.1:n.-320+11378G>A
XM_017006486.2:c.-320+11378G>A XP_016861975.1:n.-320+11378G>A
XM_017006487.1:c.-320+39952G>A XP_016861976.1:n.-320+39952G>A
XM_017006488.2:c.-320+11378G>A XP_016861977.1:n.-320+11378G>A
XM_017006489.2:c.-320+11378G>A XP_016861978.1:n.-320+11378G>A
XM_017006492.2:c.-320+11378G>A XP_016861981.1:n.-320+11378G>A
NM_001001331.4:c.-320+11378G>A MANE Select NP_001001331.1:n.-320+11378G>A
NM_001330611.3:c.-320+11378G>A NP_001317540.1:n.-320+11378G>A
NM_001683.5:c.-320+11378G>A NP_001674.2:n.-320+11378G>A
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