Canonical Allele Identifier: CA391405397

Gene: APBA2

Linked Data

• MyVariant Identifiers: chr15:g.29397589T>C (hg19) ; chr15:g.29105386T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.29105386T>C , CM000677.2:g.29105386T>C	GRCh38
NC_000015.9:g.29397589T>C , CM000677.1:g.29397589T>C	GRCh37
NC_000015.8:g.27184881T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683413.1:c.1532T>C MANE Select	ENSP00000507394.1:p.Leu511Pro
ENST00000411764.5:c.1496T>C	ENSP00000409312.1:p.Leu499Pro
ENST00000558259.5:c.1532T>C	ENSP00000454171.1:p.Leu511Pro
ENST00000558330.5:c.1496T>C	ENSP00000452722.1:p.Leu499Pro
ENST00000558402.5:c.1532T>C	ENSP00000453293.1:p.Leu511Pro
ENST00000559814.5:n.1819T>C
ENST00000561069.5:c.1532T>C	ENSP00000453144.1:p.Leu511Pro
NM_001130414.1:c.1496T>C	NP_001123886.1:p.Leu499Pro
NM_005503.3:c.1532T>C	NP_005494.2:p.Leu511Pro
XM_011521488.1:c.1532T>C	XP_011519790.1:p.Leu511Pro
XM_011521489.1:c.1532T>C	XP_011519791.1:p.Leu511Pro
XM_011521490.1:c.1532T>C	XP_011519792.1:p.Leu511Pro
XM_011521491.1:c.1532T>C	XP_011519793.1:p.Leu511Pro
XM_011521492.1:c.1532T>C	XP_011519794.1:p.Leu511Pro
XM_011521493.1:c.1502T>C	XP_011519795.1:p.Leu501Pro
XM_011521494.1:c.1532T>C	XP_011519796.1:p.Leu511Pro
XM_011521495.1:c.644T>C	XP_011519797.1:p.Leu215Pro
XM_011521496.1:c.608T>C	XP_011519798.1:p.Leu203Pro
NM_001353788.1:c.1532T>C	NP_001340717.1:p.Leu511Pro
NM_001353789.1:c.1532T>C	NP_001340718.1:p.Leu511Pro
NM_001353790.1:c.1532T>C	NP_001340719.1:p.Leu511Pro
NM_001353791.1:c.1532T>C	NP_001340720.1:p.Leu511Pro
NM_001353792.1:c.1496T>C	NP_001340721.1:p.Leu499Pro
NM_001353793.1:c.1496T>C	NP_001340722.1:p.Leu499Pro
NM_001353794.1:c.1496T>C	NP_001340723.1:p.Leu499Pro
NM_001353795.1:c.1532T>C	NP_001340724.1:p.Leu511Pro
NM_001353796.1:c.644T>C	NP_001340725.1:p.Leu215Pro
NM_001353797.1:c.608T>C	NP_001340726.1:p.Leu203Pro
XM_011521488.3:c.1532T>C	XP_011519790.1:p.Leu511Pro
XM_011521489.2:c.1532T>C	XP_011519791.1:p.Leu511Pro
XM_011521490.2:c.1532T>C	XP_011519792.1:p.Leu511Pro
XM_011521492.2:c.1532T>C	XP_011519794.1:p.Leu511Pro
XM_017022110.1:c.1532T>C	XP_016877599.1:p.Leu511Pro
XM_017022112.2:c.1532T>C	XP_016877601.1:p.Leu511Pro
XM_024449909.1:c.1502T>C	XP_024305677.1:p.Leu501Pro
NM_001353788.2:c.1532T>C MANE Select	NP_001340717.1:p.Leu511Pro
NM_001353789.2:c.1532T>C	NP_001340718.1:p.Leu511Pro
NM_001353790.2:c.1532T>C	NP_001340719.1:p.Leu511Pro
NM_001353791.2:c.1532T>C	NP_001340720.1:p.Leu511Pro
NM_001353792.2:c.1496T>C	NP_001340721.1:p.Leu499Pro
NM_001353793.2:c.1496T>C	NP_001340722.1:p.Leu499Pro
NM_001353794.2:c.1496T>C	NP_001340723.1:p.Leu499Pro
NM_001353795.2:c.1532T>C	NP_001340724.1:p.Leu511Pro
NM_001353796.2:c.644T>C	NP_001340725.1:p.Leu215Pro
NM_001353797.2:c.608T>C	NP_001340726.1:p.Leu203Pro
NM_001379685.1:c.1532T>C	NP_001366614.1:p.Leu511Pro