Canonical Allele Identifier: CA224435593

Gene: PDE2A PDE2A-AS1

Linked Data

• dbSNP Id: rs1050056895
• gnomAD v3: 11-72662511-GAC-G
• gnomAD v4: 11-72662511-GAC-G
• MyVariant Identifiers: chr11:g.72373556_72373557del (hg19) ; chr11:g.72662512_72662513del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72662515_72662516del , CM000673.2:g.72662515_72662516del	GRCh38
NC_000011.9:g.72373559_72373560del , CM000673.1:g.72373559_72373560del	GRCh37
NC_000011.8:g.72051207_72051208del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334456.10:c.71+11624_71+11625del (PDE2A) MANE Select	ENSP00000334910.5:n.71+11624_71+11625del
ENST00000334456.9:c.71+11624_71+11625del (PDE2A)	ENSP00000334910.5:n.71+11624_71+11625del
ENST00000418754.6:c.71+11624_71+11625del (PDE2A)	ENSP00000410310.2:n.71+11624_71+11625del
ENST00000535701.1:c.71+11624_71+11625del (PDE2A)	ENSP00000439302.1:n.71+11624_71+11625del
ENST00000540345.5:c.44+5785_44+5786del (PDE2A)	ENSP00000446399.1:n.44+5785_44+5786del
ENST00000540380.5:n.455+11624_455+11625del (PDE2A)
ENST00000542969.2:c.-55+11624_-55+11625del (PDE2A)	ENSP00000443232.1:n.-55+11624_-55+11625del
ENST00000546038.1:c.*80+5785_*80+5786del (PDE2A)	ENSP00000438295.1:n.*80+5785_*80+5786del
NM_001146209.2:c.44+5785_44+5786del (PDE2A)	NP_001139681.1:n.44+5785_44+5786del
NM_002599.4:c.71+11624_71+11625del (PDE2A)	NP_002590.1:n.71+11624_71+11625del
XR_950288.1:n.508+1670_508+1671del (PDE2A-AS1)
XR_001748293.1:n.750+1670_750+1671del (PDE2A-AS1)
XR_950288.3:n.726+1670_726+1671del (PDE2A-AS1)
NM_002599.5:c.71+11624_71+11625del (PDE2A) MANE Select	NP_002590.1:n.71+11624_71+11625del
NM_001146209.3:c.44+5785_44+5786del (PDE2A)	NP_001139681.1:n.44+5785_44+5786del