Canonical Allele Identifier: CA391405615

Gene: APBA2

Linked Data

• ClinVar Variation Id: 493155
• ClinVar RCV Id: RCV000585237
• dbSNP Id: rs1157094483
• gnomAD v2: 15-29397649-A-G
• gnomAD v4: 15-29105446-A-G
• MyVariant Identifiers: chr15:g.29397649A>G (hg19) ; chr15:g.29105446A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.29105446A>G , CM000677.2:g.29105446A>G	GRCh38
NC_000015.9:g.29397649A>G , CM000677.1:g.29397649A>G	GRCh37
NC_000015.8:g.27184941A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000683413.1:c.1592A>G MANE Select	ENSP00000507394.1:p.Asn531Ser
ENST00000411764.5:c.1556A>G	ENSP00000409312.1:p.Asn519Ser
ENST00000558259.5:c.1592A>G	ENSP00000454171.1:p.Asn531Ser
ENST00000558330.5:c.1556A>G	ENSP00000452722.1:p.Asn519Ser
ENST00000558402.5:c.1592A>G	ENSP00000453293.1:p.Asn531Ser
ENST00000559814.5:n.1879A>G
ENST00000561069.5:c.1592A>G	ENSP00000453144.1:p.Asn531Ser
NM_001130414.1:c.1556A>G	NP_001123886.1:p.Asn519Ser
NM_005503.3:c.1592A>G	NP_005494.2:p.Asn531Ser
XM_011521488.1:c.1592A>G	XP_011519790.1:p.Asn531Ser
XM_011521489.1:c.1592A>G	XP_011519791.1:p.Asn531Ser
XM_011521490.1:c.1592A>G	XP_011519792.1:p.Asn531Ser
XM_011521491.1:c.1592A>G	XP_011519793.1:p.Asn531Ser
XM_011521492.1:c.1592A>G	XP_011519794.1:p.Asn531Ser
XM_011521493.1:c.1562A>G	XP_011519795.1:p.Asn521Ser
XM_011521494.1:c.1592A>G	XP_011519796.1:p.Asn531Ser
XM_011521495.1:c.704A>G	XP_011519797.1:p.Asn235Ser
XM_011521496.1:c.668A>G	XP_011519798.1:p.Asn223Ser
NM_001353788.1:c.1592A>G	NP_001340717.1:p.Asn531Ser
NM_001353789.1:c.1592A>G	NP_001340718.1:p.Asn531Ser
NM_001353790.1:c.1592A>G	NP_001340719.1:p.Asn531Ser
NM_001353791.1:c.1592A>G	NP_001340720.1:p.Asn531Ser
NM_001353792.1:c.1556A>G	NP_001340721.1:p.Asn519Ser
NM_001353793.1:c.1556A>G	NP_001340722.1:p.Asn519Ser
NM_001353794.1:c.1556A>G	NP_001340723.1:p.Asn519Ser
NM_001353795.1:c.1592A>G	NP_001340724.1:p.Asn531Ser
NM_001353796.1:c.704A>G	NP_001340725.1:p.Asn235Ser
NM_001353797.1:c.668A>G	NP_001340726.1:p.Asn223Ser
XM_011521488.3:c.1592A>G	XP_011519790.1:p.Asn531Ser
XM_011521489.2:c.1592A>G	XP_011519791.1:p.Asn531Ser
XM_011521490.2:c.1592A>G	XP_011519792.1:p.Asn531Ser
XM_011521492.2:c.1592A>G	XP_011519794.1:p.Asn531Ser
XM_017022110.1:c.1592A>G	XP_016877599.1:p.Asn531Ser
XM_017022112.2:c.1592A>G	XP_016877601.1:p.Asn531Ser
XM_024449909.1:c.1562A>G	XP_024305677.1:p.Asn521Ser
NM_001353788.2:c.1592A>G MANE Select	NP_001340717.1:p.Asn531Ser
NM_001353789.2:c.1592A>G	NP_001340718.1:p.Asn531Ser
NM_001353790.2:c.1592A>G	NP_001340719.1:p.Asn531Ser
NM_001353791.2:c.1592A>G	NP_001340720.1:p.Asn531Ser
NM_001353792.2:c.1556A>G	NP_001340721.1:p.Asn519Ser
NM_001353793.2:c.1556A>G	NP_001340722.1:p.Asn519Ser
NM_001353794.2:c.1556A>G	NP_001340723.1:p.Asn519Ser
NM_001353795.2:c.1592A>G	NP_001340724.1:p.Asn531Ser
NM_001353796.2:c.704A>G	NP_001340725.1:p.Asn235Ser
NM_001353797.2:c.668A>G	NP_001340726.1:p.Asn223Ser
NM_001379685.1:c.1592A>G	NP_001366614.1:p.Asn531Ser