Canonical Allele Identifier: CA14128677
Gene: APBA2 HGNC NCBI

Linked Data

dbSNP Id: rs1873283

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.29046299C>T , CM000677.2:g.29046299C>T GRCh38
NC_000015.9:g.29338502C>T , CM000677.1:g.29338502C>T GRCh37
NC_000015.8:g.27125794C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000683413.1:c.-40-7546C>T MANE Select ENSP00000507394.1:n.-40-7546C>T
ENST00000411764.5:c.-40-7546C>T ENSP00000409312.1:n.-40-7546C>T
ENST00000558206.1:c.-40-7546C>T ENSP00000453981.1:n.-40-7546C>T
ENST00000558259.5:c.-40-7546C>T ENSP00000454171.1:n.-40-7546C>T
ENST00000558330.5:c.-40-7546C>T ENSP00000452722.1:n.-40-7546C>T
ENST00000558358.1:c.-41+1871C>T ENSP00000453715.1:n.-41+1871C>T
ENST00000558402.5:c.-40-7546C>T ENSP00000453293.1:n.-40-7546C>T
ENST00000558804.5:c.-40-7546C>T ENSP00000454001.1:n.-40-7546C>T
ENST00000559709.5:c.-40-7546C>T ENSP00000452699.1:n.-40-7546C>T
ENST00000559814.5:n.284-7546C>T
ENST00000560283.5:c.-40-7546C>T ENSP00000453034.1:n.-40-7546C>T
ENST00000561069.5:c.-40-7546C>T ENSP00000453144.1:n.-40-7546C>T
NM_001130414.1:c.-40-7546C>T NP_001123886.1:n.-40-7546C>T
NM_005503.3:c.-40-7546C>T NP_005494.2:n.-40-7546C>T
XM_011521488.1:c.-40-7546C>T XP_011519790.1:n.-40-7546C>T
XM_011521489.1:c.-40-7546C>T XP_011519791.1:n.-40-7546C>T
XM_011521490.1:c.-40-7546C>T XP_011519792.1:n.-40-7546C>T
XM_011521491.1:c.-40-7546C>T XP_011519793.1:n.-40-7546C>T
XM_011521492.1:c.-40-7546C>T XP_011519794.1:n.-40-7546C>T
XM_011521493.1:c.-40-7546C>T XP_011519795.1:n.-40-7546C>T
XM_011521494.1:c.-40-7546C>T XP_011519796.1:n.-40-7546C>T
NM_001353788.1:c.-40-7546C>T NP_001340717.1:n.-40-7546C>T
NM_001353789.1:c.-40-7546C>T NP_001340718.1:n.-40-7546C>T
NM_001353790.1:c.-40-7546C>T NP_001340719.1:n.-40-7546C>T
NM_001353791.1:c.-40-7546C>T NP_001340720.1:n.-40-7546C>T
NM_001353792.1:c.-40-7546C>T NP_001340721.1:n.-40-7546C>T
NM_001353793.1:c.-40-7546C>T NP_001340722.1:n.-40-7546C>T
NM_001353794.1:c.-40-7546C>T NP_001340723.1:n.-40-7546C>T
NM_001353795.1:c.-40-7546C>T NP_001340724.1:n.-40-7546C>T
XM_011521488.3:c.-40-7546C>T XP_011519790.1:n.-40-7546C>T
XM_011521489.2:c.-40-7546C>T XP_011519791.1:n.-40-7546C>T
XM_011521490.2:c.-40-7546C>T XP_011519792.1:n.-40-7546C>T
XM_011521492.2:c.-40-7546C>T XP_011519794.1:n.-40-7546C>T
XM_017022110.1:c.-40-7546C>T XP_016877599.1:n.-40-7546C>T
XM_017022112.2:c.-40-7546C>T XP_016877601.1:n.-40-7546C>T
XM_024449909.1:c.-40-7546C>T XP_024305677.1:n.-40-7546C>T
NM_001353788.2:c.-40-7546C>T MANE Select NP_001340717.1:n.-40-7546C>T
NM_001353789.2:c.-40-7546C>T NP_001340718.1:n.-40-7546C>T
NM_001353790.2:c.-40-7546C>T NP_001340719.1:n.-40-7546C>T
NM_001353791.2:c.-40-7546C>T NP_001340720.1:n.-40-7546C>T
NM_001353792.2:c.-40-7546C>T NP_001340721.1:n.-40-7546C>T
NM_001353793.2:c.-40-7546C>T NP_001340722.1:n.-40-7546C>T
NM_001353794.2:c.-40-7546C>T NP_001340723.1:n.-40-7546C>T
NM_001353795.2:c.-40-7546C>T NP_001340724.1:n.-40-7546C>T
NM_001379685.1:c.-40-7546C>T NP_001366614.1:n.-40-7546C>T