Canonical Allele Identifier: CA391405570

Gene: APBA2

Linked Data

• gnomAD v4: 15-29105432-G-T
• MyVariant Identifiers: chr15:g.29397635G>T (hg19) ; chr15:g.29105432G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.29105432G>T , CM000677.2:g.29105432G>T	GRCh38
NC_000015.9:g.29397635G>T , CM000677.1:g.29397635G>T	GRCh37
NC_000015.8:g.27184927G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683413.1:c.1578G>T MANE Select	ENSP00000507394.1:p.Glu526Asp
ENST00000411764.5:c.1542G>T	ENSP00000409312.1:p.Glu514Asp
ENST00000558259.5:c.1578G>T	ENSP00000454171.1:p.Glu526Asp
ENST00000558330.5:c.1542G>T	ENSP00000452722.1:p.Glu514Asp
ENST00000558402.5:c.1578G>T	ENSP00000453293.1:p.Glu526Asp
ENST00000559814.5:n.1865G>T
ENST00000561069.5:c.1578G>T	ENSP00000453144.1:p.Glu526Asp
NM_001130414.1:c.1542G>T	NP_001123886.1:p.Glu514Asp
NM_005503.3:c.1578G>T	NP_005494.2:p.Glu526Asp
XM_011521488.1:c.1578G>T	XP_011519790.1:p.Glu526Asp
XM_011521489.1:c.1578G>T	XP_011519791.1:p.Glu526Asp
XM_011521490.1:c.1578G>T	XP_011519792.1:p.Glu526Asp
XM_011521491.1:c.1578G>T	XP_011519793.1:p.Glu526Asp
XM_011521492.1:c.1578G>T	XP_011519794.1:p.Glu526Asp
XM_011521493.1:c.1548G>T	XP_011519795.1:p.Glu516Asp
XM_011521494.1:c.1578G>T	XP_011519796.1:p.Glu526Asp
XM_011521495.1:c.690G>T	XP_011519797.1:p.Glu230Asp
XM_011521496.1:c.654G>T	XP_011519798.1:p.Glu218Asp
NM_001353788.1:c.1578G>T	NP_001340717.1:p.Glu526Asp
NM_001353789.1:c.1578G>T	NP_001340718.1:p.Glu526Asp
NM_001353790.1:c.1578G>T	NP_001340719.1:p.Glu526Asp
NM_001353791.1:c.1578G>T	NP_001340720.1:p.Glu526Asp
NM_001353792.1:c.1542G>T	NP_001340721.1:p.Glu514Asp
NM_001353793.1:c.1542G>T	NP_001340722.1:p.Glu514Asp
NM_001353794.1:c.1542G>T	NP_001340723.1:p.Glu514Asp
NM_001353795.1:c.1578G>T	NP_001340724.1:p.Glu526Asp
NM_001353796.1:c.690G>T	NP_001340725.1:p.Glu230Asp
NM_001353797.1:c.654G>T	NP_001340726.1:p.Glu218Asp
XM_011521488.3:c.1578G>T	XP_011519790.1:p.Glu526Asp
XM_011521489.2:c.1578G>T	XP_011519791.1:p.Glu526Asp
XM_011521490.2:c.1578G>T	XP_011519792.1:p.Glu526Asp
XM_011521492.2:c.1578G>T	XP_011519794.1:p.Glu526Asp
XM_017022110.1:c.1578G>T	XP_016877599.1:p.Glu526Asp
XM_017022112.2:c.1578G>T	XP_016877601.1:p.Glu526Asp
XM_024449909.1:c.1548G>T	XP_024305677.1:p.Glu516Asp
NM_001353788.2:c.1578G>T MANE Select	NP_001340717.1:p.Glu526Asp
NM_001353789.2:c.1578G>T	NP_001340718.1:p.Glu526Asp
NM_001353790.2:c.1578G>T	NP_001340719.1:p.Glu526Asp
NM_001353791.2:c.1578G>T	NP_001340720.1:p.Glu526Asp
NM_001353792.2:c.1542G>T	NP_001340721.1:p.Glu514Asp
NM_001353793.2:c.1542G>T	NP_001340722.1:p.Glu514Asp
NM_001353794.2:c.1542G>T	NP_001340723.1:p.Glu514Asp
NM_001353795.2:c.1578G>T	NP_001340724.1:p.Glu526Asp
NM_001353796.2:c.690G>T	NP_001340725.1:p.Glu230Asp
NM_001353797.2:c.654G>T	NP_001340726.1:p.Glu218Asp
NM_001379685.1:c.1578G>T	NP_001366614.1:p.Glu526Asp