Canonical Allele Identifier: CA3811765
Gene: PPP2R5D HGNC NCBI
MEA1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.43006514C>A
GRCh37 chr6:g.42974252C>A
Revel Score:
ENST00000485511 (MANE Select) 0.069
ENST00000394110 0.069
ENST00000472118 0.069
ENST00000541610 0.069
gnomAD v2:
6:42974252 C / A
gnomAD v4:
chr6-43006514-C-A
Joint Max Group AF 0.00000875 (SAS)
Exomes Max Group AF 0.00000924 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.43006514C>A , CM000668.2:g.43006514C>A GRCh38
NC_000006.11:g.42974252C>A , CM000668.1:g.42974252C>A GRCh37
NC_000006.10:g.43082230C>A NCBI36
NG_050636.1:g.27016C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000485511.6:c.157C>A (PPP2R5D) MANE Select ENSP00000417963.1:p.Pro53Thr
ENST00000230402.10:c.174C>A (PPP2R5D) ENSP00000230402.6:p.His58Gln
ENST00000394110.7:c.157C>A (PPP2R5D) ENSP00000377669.3:p.Pro53Thr
ENST00000461010.5:c.28-420C>A (PPP2R5D) ENSP00000420674.1:n.28-420C>A
ENST00000472118.5:c.133C>A (PPP2R5D) ENSP00000420550.1:p.Pro45Thr
ENST00000485511.5:c.157C>A (PPP2R5D) ENSP00000417963.1:p.Pro53Thr
NM_001270476.1:c.-297C>A (PPP2R5D) NP_001257405.1:n.-297C>A
NM_006245.3:c.157C>A (PPP2R5D) NP_006236.1:p.Pro53Thr
NM_180976.2:c.157C>A (PPP2R5D) NP_851307.1:p.Pro53Thr
NM_180977.2:c.28-420C>A (PPP2R5D) NP_851308.1:n.28-420C>A
XM_005249123.1:c.367+6412G>T (MEA1) XP_005249180.1:n.367+6412G>T
XM_017010868.1:c.367+6412G>T (MEA1) XP_016866357.1:n.367+6412G>T
NM_006245.4:c.157C>A (PPP2R5D) MANE Select NP_006236.1:p.Pro53Thr
NM_001270476.2:c.-297C>A (PPP2R5D) NP_001257405.1:n.-297C>A
NM_180976.3:c.157C>A (PPP2R5D) NP_851307.1:p.Pro53Thr
NM_180977.3:c.28-420C>A (PPP2R5D) NP_851308.1:n.28-420C>A
Search 100 bp 5'
Search 100 bp 3'