Canonical Allele Identifier: CA3811795
Community Standard Title: NM_006245.4(PPP2R5D):c.322+51G>A
Gene: PPP2R5D HGNC NCBI
MEA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43006730G>A , CM000668.2:g.43006730G>A GRCh38
NC_000006.11:g.42974468G>A , CM000668.1:g.42974468G>A GRCh37
NC_000006.10:g.43082446G>A NCBI36
NG_050636.1:g.27232G>A

Transcript Alleles

HGVS Amino-acid Change
NM_006245.4:c.322+51G>A (PPP2R5D) MANE Select NP_006236.1:n.322+51G>A
ENST00000485511.6:c.322+51G>A (PPP2R5D) MANE Select ENSP00000417963.1:n.322+51G>A
NM_001270476.1:c.-132+51G>A (PPP2R5D) NP_001257405.1:n.-132+51G>A
NM_001270476.2:c.-132+51G>A (PPP2R5D) NP_001257405.1:n.-132+51G>A
NM_006245.3:c.322+51G>A (PPP2R5D) NP_006236.1:n.322+51G>A
NM_180976.2:c.249+124G>A (PPP2R5D) NP_851307.1:n.249+124G>A
NM_180976.3:c.249+124G>A (PPP2R5D) NP_851307.1:n.249+124G>A
NM_180977.2:c.28-204G>A (PPP2R5D) NP_851308.1:n.28-204G>A
NM_180977.3:c.28-204G>A (PPP2R5D) NP_851308.1:n.28-204G>A
ENST00000230402.10:c.*3+51G>A (PPP2R5D) ENSP00000230402.6:n.*3+51G>A
ENST00000394110.7:c.249+124G>A (PPP2R5D) ENSP00000377669.3:n.249+124G>A
ENST00000461010.5:c.28-204G>A (PPP2R5D) ENSP00000420674.1:n.28-204G>A
ENST00000470467.5:c.80+51G>A (PPP2R5D)
ENST00000472118.5:c.298+51G>A (PPP2R5D) ENSP00000420550.1:n.298+51G>A
ENST00000485511.5:c.322+51G>A (PPP2R5D) ENSP00000417963.1:n.322+51G>A
XM_005249123.1:c.367+6196C>T (MEA1) XP_005249180.1:n.367+6196C>T
XM_017010868.1:c.367+6196C>T (MEA1) XP_016866357.1:n.367+6196C>T