Canonical Allele Identifier: CA679978080

Gene: PDE2A PDE2A-AS1

Linked Data

• dbSNP Id: rs1184700463
• gnomAD v3: 11-72662535-TTGTC-T
• gnomAD v4: 11-72662535-TTGTC-T
• MyVariant Identifiers: chr11:g.72373580_72373583del (hg19) ; chr11:g.72662536_72662539del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72662538_72662541del , CM000673.2:g.72662538_72662541del	GRCh38
NC_000011.9:g.72373582_72373585del , CM000673.1:g.72373582_72373585del	GRCh37
NC_000011.8:g.72051230_72051233del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334456.10:c.71+11598_71+11601del (PDE2A) MANE Select	ENSP00000334910.5:n.71+11598_71+11601del
ENST00000334456.9:c.71+11598_71+11601del (PDE2A)	ENSP00000334910.5:n.71+11598_71+11601del
ENST00000418754.6:c.71+11598_71+11601del (PDE2A)	ENSP00000410310.2:n.71+11598_71+11601del
ENST00000535701.1:c.71+11598_71+11601del (PDE2A)	ENSP00000439302.1:n.71+11598_71+11601del
ENST00000540345.5:c.44+5759_44+5762del (PDE2A)	ENSP00000446399.1:n.44+5759_44+5762del
ENST00000540380.5:n.455+11598_455+11601del (PDE2A)
ENST00000542969.2:c.-55+11598_-55+11601del (PDE2A)	ENSP00000443232.1:n.-55+11598_-55+11601del
ENST00000546038.1:c.*80+5759_*80+5762del (PDE2A)	ENSP00000438295.1:n.*80+5759_*80+5762del
NM_001146209.2:c.44+5759_44+5762del (PDE2A)	NP_001139681.1:n.44+5759_44+5762del
NM_002599.4:c.71+11598_71+11601del (PDE2A)	NP_002590.1:n.71+11598_71+11601del
XR_950288.1:n.508+1693_508+1696del (PDE2A-AS1)
XR_001748293.1:n.750+1693_750+1696del (PDE2A-AS1)
XR_950288.3:n.726+1693_726+1696del (PDE2A-AS1)
NM_002599.5:c.71+11598_71+11601del (PDE2A) MANE Select	NP_002590.1:n.71+11598_71+11601del
NM_001146209.3:c.44+5759_44+5762del (PDE2A)	NP_001139681.1:n.44+5759_44+5762del