Canonical Allele Identifier: CA2678797345

Gene: PPP2R5D MEA1

Linked Data

• gnomAD v4: 6-43007173-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.43007173C>G , CM000668.2:g.43007173C>G	GRCh38
NC_000006.11:g.42974911C>G , CM000668.1:g.42974911C>G	GRCh37
NC_000006.10:g.43082889C>G	NCBI36
NG_050636.1:g.27675C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000485511.6:c.523-23C>G (PPP2R5D) MANE Select	ENSP00000417963.1:n.523-23C>G
ENST00000676174.1:n.182-23C>G (PPP2R5D)
ENST00000230402.10:c.*204-23C>G (PPP2R5D)	ENSP00000230402.6:n.*204-23C>G
ENST00000394110.7:c.427-23C>G (PPP2R5D)	ENSP00000377669.3:n.427-23C>G
ENST00000461010.5:c.205-23C>G (PPP2R5D)	ENSP00000420674.1:n.205-23C>G
ENST00000467447.1:n.100-23C>G (PPP2R5D)
ENST00000470467.5:c.281-23C>G (PPP2R5D)
ENST00000472118.5:c.499-23C>G (PPP2R5D)	ENSP00000420550.1:n.499-23C>G
ENST00000485511.5:c.523-23C>G (PPP2R5D)	ENSP00000417963.1:n.523-23C>G
NM_001270476.1:c.70-23C>G (PPP2R5D)	NP_001257405.1:n.70-23C>G
NM_006245.3:c.523-23C>G (PPP2R5D)	NP_006236.1:n.523-23C>G
NM_180976.2:c.427-23C>G (PPP2R5D)	NP_851307.1:n.427-23C>G
NM_180977.2:c.205-23C>G (PPP2R5D)	NP_851308.1:n.205-23C>G
XM_005249123.1:c.367+5753G>C (MEA1)	XP_005249180.1:n.367+5753G>C
XM_017010868.1:c.367+5753G>C (MEA1)	XP_016866357.1:n.367+5753G>C
NM_006245.4:c.523-23C>G (PPP2R5D) MANE Select	NP_006236.1:n.523-23C>G
NM_001270476.2:c.70-23C>G (PPP2R5D)	NP_001257405.1:n.70-23C>G
NM_180976.3:c.427-23C>G (PPP2R5D)	NP_851307.1:n.427-23C>G
NM_180977.3:c.205-23C>G (PPP2R5D)	NP_851308.1:n.205-23C>G